LymphedemaV1, Main, Exploration, bibRecord, 004A11

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Identifieur interne : 004A11 ( Main/Exploration ); précédent : 004A10; suivant : 004A12

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Auteurs : Alan F. Rope [États-Unis] ; Kai Wang [États-Unis] ; Rune Evjenth [Norvège] ; Jinchuan Xing [États-Unis] ; Jennifer J. Johnston [États-Unis] ; Jeffrey J. Swensen [États-Unis] ; W. Evan Johnson [États-Unis] ; Barry Moore [États-Unis] ; Chad D. Huff [États-Unis] ; Lynne M. Bird [États-Unis] ; John C. Carey [États-Unis] ; John M. Opitz [États-Unis] ; Cathy A. Stevens [États-Unis] ; Tao Jiang [République populaire de Chine] ; Christa Schank [États-Unis] ; Heidi Deborah Fain [États-Unis] ; Reid Robison [États-Unis] ; Brian Dalley [États-Unis] ; Steven Chin [États-Unis] ; Sarah T. South [États-Unis] ; Theodore J. Pysher [États-Unis] ; Lynn B. Jorde [États-Unis] ; Hakon Hakonarson [États-Unis] ; Johan R. Lillehaug [Norvège] ; Leslie G. Biesecker [États-Unis] ; Mark Yandell [États-Unis] ; Thomas Arnesen [Norvège] ; Gholson J. Lyon [États-Unis]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2011.

RBID : PMC:3135802

Abstract

We have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism, and cardiac arrhythmias. Using X chromosome exon sequencing and a recently developed probabilistic algorithm aimed at discovering disease-causing variants, we identified in one family a c.109T>C (p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase (NAT). A parallel effort on a second unrelated family converged on the same variant. The absence of this variant in controls, the amino acid conservation of this region of the protein, the predicted disruptive change, and the co-occurrence in two unrelated families with the same rare disorder suggest that this is the pathogenic mutation. We confirmed this by demonstrating a significantly impaired biochemical activity of the mutant hNaa10p, and from this we conclude that a reduction in acetylation by hNaa10p causes this disease. Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135802

DOI: 10.1016/j.ajhg.2011.05.017
PubMed: 21700266
PubMed Central: 3135802

Affiliations:

Le document en format XML

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<author><name sortKey="Bird, Lynne M" sort="Bird, Lynne M" uniqKey="Bird L" first="Lynne M." last="Bird">Lynne M. Bird</name>
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<author><name sortKey="Jiang, Tao" sort="Jiang, Tao" uniqKey="Jiang T" first="Tao" last="Jiang">Tao Jiang</name>
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<author><name sortKey="South, Sarah T" sort="South, Sarah T" uniqKey="South S" first="Sarah T." last="South">Sarah T. South</name>
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<author><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J." last="Pysher">Theodore J. Pysher</name>
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<author><name sortKey="Hakonarson, Hakon" sort="Hakonarson, Hakon" uniqKey="Hakonarson H" first="Hakon" last="Hakonarson">Hakon Hakonarson</name>
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<author><name sortKey="Lillehaug, Johan R" sort="Lillehaug, Johan R" uniqKey="Lillehaug J" first="Johan R." last="Lillehaug">Johan R. Lillehaug</name>
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<author><name sortKey="Biesecker, Leslie G" sort="Biesecker, Leslie G" uniqKey="Biesecker L" first="Leslie G." last="Biesecker">Leslie G. Biesecker</name>
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<author><name sortKey="Yandell, Mark" sort="Yandell, Mark" uniqKey="Yandell M" first="Mark" last="Yandell">Mark Yandell</name>
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<affiliation wicri:level="1"><nlm:aff id="aff17">Department of Surgery, Haukeland University Hospital, N‐5021 Bergen, Norway</nlm:aff>
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<author><name sortKey="Lyon, Gholson J" sort="Lyon, Gholson J" uniqKey="Lyon G" first="Gholson J." last="Lyon">Gholson J. Lyon</name>
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<affiliation wicri:level="1"><nlm:aff id="aff18">New York University Child Study Center, New York, NY 10016, USA</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency</title>
<author><name sortKey="Rope, Alan F" sort="Rope, Alan F" uniqKey="Rope A" first="Alan F." last="Rope">Alan F. Rope</name>
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<author><name sortKey="Wang, Kai" sort="Wang, Kai" uniqKey="Wang K" first="Kai" last="Wang">Kai Wang</name>
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</author>
<author><name sortKey="Evjenth, Rune" sort="Evjenth, Rune" uniqKey="Evjenth R" first="Rune" last="Evjenth">Rune Evjenth</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Department of Molecular Biology, University of Bergen, N–5020 Bergen, Norway</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Molecular Biology, University of Bergen, N–5020 Bergen</wicri:regionArea>
<wicri:noRegion>N–5020 Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xing, Jinchuan" sort="Xing, Jinchuan" uniqKey="Xing J" first="Jinchuan" last="Xing">Jinchuan Xing</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Johnston, Jennifer J" sort="Johnston, Jennifer J" uniqKey="Johnston J" first="Jennifer J." last="Johnston">Jennifer J. Johnston</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892</wicri:regionArea>
<wicri:noRegion>MD 20892</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Swensen, Jeffrey J" sort="Swensen, Jeffrey J" uniqKey="Swensen J" first="Jeffrey J." last="Swensen">Jeffrey J. Swensen</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7">ARUP Laboratories, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>ARUP Laboratories, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Johnson, W Evan" sort="Johnson, W Evan" uniqKey="Johnson W" first="W. Evan" last="Johnson">W. Evan Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Department of Statistics, Brigham Young University, Provo, UT 84602, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Statistics, Brigham Young University, Provo, UT 84602</wicri:regionArea>
<wicri:noRegion>UT 84602</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moore, Barry" sort="Moore, Barry" uniqKey="Moore B" first="Barry" last="Moore">Barry Moore</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Huff, Chad D" sort="Huff, Chad D" uniqKey="Huff C" first="Chad D." last="Huff">Chad D. Huff</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bird, Lynne M" sort="Bird, Lynne M" uniqKey="Bird L" first="Lynne M." last="Bird">Lynne M. Bird</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">Rady Children's Hospital and University of California, San Diego, Department of Pediatrics, San Diego, CA 92123, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Rady Children's Hospital and University of California, San Diego, Department of Pediatrics, San Diego, CA 92123</wicri:regionArea>
<wicri:noRegion>CA 92123</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Pediatrics (Medical Genetics), University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics (Medical Genetics), University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Pediatrics (Medical Genetics), University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics (Medical Genetics), University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4">Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Department of Neurology, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stevens, Cathy A" sort="Stevens, Cathy A" uniqKey="Stevens C" first="Cathy A." last="Stevens">Cathy A. Stevens</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38163, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38163</wicri:regionArea>
<wicri:noRegion>TN 38163</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jiang, Tao" sort="Jiang, Tao" uniqKey="Jiang T" first="Tao" last="Jiang">Tao Jiang</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">BGI-Shenzhen, Shenzhen 518083, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>BGI-Shenzhen, Shenzhen 518083</wicri:regionArea>
<placeName><settlement type="city">Shenzhen</settlement>
<region type="province">Guangdong</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff14">Genome Research Institute, Shenzhen University Medical School, Shenzhen 518060, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Genome Research Institute, Shenzhen University Medical School, Shenzhen 518060</wicri:regionArea>
<placeName><settlement type="city">Shenzhen</settlement>
<region type="province">Guangdong</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schank, Christa" sort="Schank, Christa" uniqKey="Schank C" first="Christa" last="Schank">Christa Schank</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Department of Statistics, Brigham Young University, Provo, UT 84602, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Statistics, Brigham Young University, Provo, UT 84602</wicri:regionArea>
<wicri:noRegion>UT 84602</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fain, Heidi Deborah" sort="Fain, Heidi Deborah" uniqKey="Fain H" first="Heidi Deborah" last="Fain">Heidi Deborah Fain</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Department of Psychiatry, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Robison, Reid" sort="Robison, Reid" uniqKey="Robison R" first="Reid" last="Robison">Reid Robison</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Department of Psychiatry, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dalley, Brian" sort="Dalley, Brian" uniqKey="Dalley B" first="Brian" last="Dalley">Brian Dalley</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Huntsman Cancer Institute, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Huntsman Cancer Institute, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chin, Steven" sort="Chin, Steven" uniqKey="Chin S" first="Steven" last="Chin">Steven Chin</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="South, Sarah T" sort="South, Sarah T" uniqKey="South S" first="Sarah T." last="South">Sarah T. South</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Pediatrics (Medical Genetics), University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics (Medical Genetics), University of Utah School of Medicine, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7">ARUP Laboratories, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>ARUP Laboratories, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J." last="Pysher">Theodore J. Pysher</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jorde, Lynn B" sort="Jorde, Lynn B" uniqKey="Jorde L" first="Lynn B." last="Jorde">Lynn B. Jorde</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hakonarson, Hakon" sort="Hakonarson, Hakon" uniqKey="Hakonarson H" first="Hakon" last="Hakonarson">Hakon Hakonarson</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104</wicri:regionArea>
<wicri:noRegion>PA 19104</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lillehaug, Johan R" sort="Lillehaug, Johan R" uniqKey="Lillehaug J" first="Johan R." last="Lillehaug">Johan R. Lillehaug</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Department of Molecular Biology, University of Bergen, N–5020 Bergen, Norway</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Molecular Biology, University of Bergen, N–5020 Bergen</wicri:regionArea>
<wicri:noRegion>N–5020 Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Biesecker, Leslie G" sort="Biesecker, Leslie G" uniqKey="Biesecker L" first="Leslie G." last="Biesecker">Leslie G. Biesecker</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892</wicri:regionArea>
<wicri:noRegion>MD 20892</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yandell, Mark" sort="Yandell, Mark" uniqKey="Yandell M" first="Mark" last="Yandell">Mark Yandell</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Arnesen, Thomas" sort="Arnesen, Thomas" uniqKey="Arnesen T" first="Thomas" last="Arnesen">Thomas Arnesen</name>
<affiliation wicri:level="1"><nlm:aff id="aff3">Department of Molecular Biology, University of Bergen, N–5020 Bergen, Norway</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Molecular Biology, University of Bergen, N–5020 Bergen</wicri:regionArea>
<wicri:noRegion>N–5020 Bergen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17">Department of Surgery, Haukeland University Hospital, N‐5021 Bergen, Norway</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Surgery, Haukeland University Hospital, N‐5021 Bergen</wicri:regionArea>
<wicri:noRegion>N‐5021 Bergen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lyon, Gholson J" sort="Lyon, Gholson J" uniqKey="Lyon G" first="Gholson J." last="Lyon">Gholson J. Lyon</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Department of Psychiatry, University of Utah, Salt Lake City, UT 84112, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of Utah, Salt Lake City, UT 84112</wicri:regionArea>
<wicri:noRegion>UT 84112</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18">New York University Child Study Center, New York, NY 10016, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>New York University Child Study Center, New York, NY 10016</wicri:regionArea>
<wicri:noRegion>NY 10016</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en"><p>We have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism, and cardiac arrhythmias. Using X chromosome exon sequencing and a recently developed probabilistic algorithm aimed at discovering disease-causing variants, we identified in one family a c.109T>C (p.Ser37Pro) variant in <italic>NAA10</italic>
, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase (NAT). A parallel effort on a second unrelated family converged on the same variant. The absence of this variant in controls, the amino acid conservation of this region of the protein, the predicted disruptive change, and the co-occurrence in two unrelated families with the same rare disorder suggest that this is the pathogenic mutation. We confirmed this by demonstrating a significantly impaired biochemical activity of the mutant hNaa10p, and from this we conclude that a reduction in acetylation by hNaa10p causes this disease. Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Norvège</li>
<li>République populaire de Chine</li>
<li>États-Unis</li>
</country>
<region><li>Guangdong</li>
</region>
<settlement><li>Shenzhen</li>
</settlement>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Rope, Alan F" sort="Rope, Alan F" uniqKey="Rope A" first="Alan F." last="Rope">Alan F. Rope</name>
</noRegion>
<name sortKey="Biesecker, Leslie G" sort="Biesecker, Leslie G" uniqKey="Biesecker L" first="Leslie G." last="Biesecker">Leslie G. Biesecker</name>
<name sortKey="Bird, Lynne M" sort="Bird, Lynne M" uniqKey="Bird L" first="Lynne M." last="Bird">Lynne M. Bird</name>
<name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name>
<name sortKey="Chin, Steven" sort="Chin, Steven" uniqKey="Chin S" first="Steven" last="Chin">Steven Chin</name>
<name sortKey="Dalley, Brian" sort="Dalley, Brian" uniqKey="Dalley B" first="Brian" last="Dalley">Brian Dalley</name>
<name sortKey="Fain, Heidi Deborah" sort="Fain, Heidi Deborah" uniqKey="Fain H" first="Heidi Deborah" last="Fain">Heidi Deborah Fain</name>
<name sortKey="Hakonarson, Hakon" sort="Hakonarson, Hakon" uniqKey="Hakonarson H" first="Hakon" last="Hakonarson">Hakon Hakonarson</name>
<name sortKey="Huff, Chad D" sort="Huff, Chad D" uniqKey="Huff C" first="Chad D." last="Huff">Chad D. Huff</name>
<name sortKey="Johnson, W Evan" sort="Johnson, W Evan" uniqKey="Johnson W" first="W. Evan" last="Johnson">W. Evan Johnson</name>
<name sortKey="Johnston, Jennifer J" sort="Johnston, Jennifer J" uniqKey="Johnston J" first="Jennifer J." last="Johnston">Jennifer J. Johnston</name>
<name sortKey="Jorde, Lynn B" sort="Jorde, Lynn B" uniqKey="Jorde L" first="Lynn B." last="Jorde">Lynn B. Jorde</name>
<name sortKey="Lyon, Gholson J" sort="Lyon, Gholson J" uniqKey="Lyon G" first="Gholson J." last="Lyon">Gholson J. Lyon</name>
<name sortKey="Lyon, Gholson J" sort="Lyon, Gholson J" uniqKey="Lyon G" first="Gholson J." last="Lyon">Gholson J. Lyon</name>
<name sortKey="Moore, Barry" sort="Moore, Barry" uniqKey="Moore B" first="Barry" last="Moore">Barry Moore</name>
<name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J." last="Pysher">Theodore J. Pysher</name>
<name sortKey="Robison, Reid" sort="Robison, Reid" uniqKey="Robison R" first="Reid" last="Robison">Reid Robison</name>
<name sortKey="Schank, Christa" sort="Schank, Christa" uniqKey="Schank C" first="Christa" last="Schank">Christa Schank</name>
<name sortKey="South, Sarah T" sort="South, Sarah T" uniqKey="South S" first="Sarah T." last="South">Sarah T. South</name>
<name sortKey="South, Sarah T" sort="South, Sarah T" uniqKey="South S" first="Sarah T." last="South">Sarah T. South</name>
<name sortKey="Stevens, Cathy A" sort="Stevens, Cathy A" uniqKey="Stevens C" first="Cathy A." last="Stevens">Cathy A. Stevens</name>
<name sortKey="Swensen, Jeffrey J" sort="Swensen, Jeffrey J" uniqKey="Swensen J" first="Jeffrey J." last="Swensen">Jeffrey J. Swensen</name>
<name sortKey="Swensen, Jeffrey J" sort="Swensen, Jeffrey J" uniqKey="Swensen J" first="Jeffrey J." last="Swensen">Jeffrey J. Swensen</name>
<name sortKey="Wang, Kai" sort="Wang, Kai" uniqKey="Wang K" first="Kai" last="Wang">Kai Wang</name>
<name sortKey="Xing, Jinchuan" sort="Xing, Jinchuan" uniqKey="Xing J" first="Jinchuan" last="Xing">Jinchuan Xing</name>
<name sortKey="Yandell, Mark" sort="Yandell, Mark" uniqKey="Yandell M" first="Mark" last="Yandell">Mark Yandell</name>
</country>
<country name="Norvège"><noRegion><name sortKey="Evjenth, Rune" sort="Evjenth, Rune" uniqKey="Evjenth R" first="Rune" last="Evjenth">Rune Evjenth</name>
</noRegion>
<name sortKey="Arnesen, Thomas" sort="Arnesen, Thomas" uniqKey="Arnesen T" first="Thomas" last="Arnesen">Thomas Arnesen</name>
<name sortKey="Arnesen, Thomas" sort="Arnesen, Thomas" uniqKey="Arnesen T" first="Thomas" last="Arnesen">Thomas Arnesen</name>
<name sortKey="Lillehaug, Johan R" sort="Lillehaug, Johan R" uniqKey="Lillehaug J" first="Johan R." last="Lillehaug">Johan R. Lillehaug</name>
</country>
<country name="République populaire de Chine"><region name="Guangdong"><name sortKey="Jiang, Tao" sort="Jiang, Tao" uniqKey="Jiang T" first="Tao" last="Jiang">Tao Jiang</name>
</region>
<name sortKey="Jiang, Tao" sort="Jiang, Tao" uniqKey="Jiang T" first="Tao" last="Jiang">Tao Jiang</name>
</country>
</tree>
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{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3135802
   |texte=   Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
}}

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Serveur d'exploration sur le lymphœdème

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

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Abstract

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	Serveur d'exploration sur le lymphœdème
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