A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Identifieur interne : 004552 ( Main/Exploration ); précédent : 004551; suivant : 004553A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Auteurs : Bassam R. Ali [Émirats arabes unis] ; Jennifer L. Silhavy [États-Unis] ; Nadia A. Akawi [Émirats arabes unis] ; Joseph G. Gleeson [États-Unis] ; Lihadh Al-Gazali [Émirats arabes unis]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2012.
Abstract
We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26.
In this manuscript, we have used whole exome sequencing on two affected members of a consanguineous family with this condition and carried out detailed bioinformatics analysis to elucidate the causative mutation.
Our analysis resulted in the identification of a homozygous p.N1060S missense mutation in a highly conserved residue in KIF7, a regulator of Hedgehog signaling that has been recently found to be causing Joubert syndrome, fetal hydrolethalus and acrocallosal syndromes. The phenotype in our patients partially overlaps with the phenotypes associated with those syndromes but they also exhibit some distinctive features including multiple epiphyseal dysplasia.
We report the first missense homozygous disease-causing mutation in
Url:
DOI: 10.1186/1750-1172-7-27
PubMed: 22587682
PubMed Central: 3492204
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A mutation in <italic>KIF7</italic> is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance</title><author><name sortKey="Ali, Bassam R" sort="Ali, Bassam R" uniqKey="Ali B" first="Bassam R" last="Ali">Bassam R. Ali</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates</nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain</wicri:regionArea><wicri:noRegion>Al-Ain</wicri:noRegion></affiliation></author><author><name sortKey="Silhavy, Jennifer L" sort="Silhavy, Jennifer L" uniqKey="Silhavy J" first="Jennifer L" last="Silhavy">Jennifer L. Silhavy</name><affiliation wicri:level="3"><nlm:aff id="I2">Department of Paediatrics and Neurosciences, University of California, San Diego, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Paediatrics and Neurosciences, University of California, San Diego</wicri:regionArea><placeName><settlement type="city">San Diego</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Akawi, Nadia A" sort="Akawi, Nadia A" uniqKey="Akawi N" first="Nadia A" last="Akawi">Nadia A. Akawi</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates</nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain</wicri:regionArea><wicri:noRegion>Al-Ain</wicri:noRegion></affiliation></author><author><name sortKey="Gleeson, Joseph G" sort="Gleeson, Joseph G" uniqKey="Gleeson J" first="Joseph G" last="Gleeson">Joseph G. Gleeson</name><affiliation wicri:level="3"><nlm:aff id="I2">Department of Paediatrics and Neurosciences, University of California, San Diego, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Paediatrics and Neurosciences, University of California, San Diego</wicri:regionArea><placeName><settlement type="city">San Diego</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:aff id="I3">Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates</nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, P.O. 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Ali</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates</nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain</wicri:regionArea><wicri:noRegion>Al-Ain</wicri:noRegion></affiliation></author><author><name sortKey="Silhavy, Jennifer L" sort="Silhavy, Jennifer L" uniqKey="Silhavy J" first="Jennifer L" last="Silhavy">Jennifer L. Silhavy</name><affiliation wicri:level="3"><nlm:aff id="I2">Department of Paediatrics and Neurosciences, University of California, San Diego, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Paediatrics and Neurosciences, University of California, San Diego</wicri:regionArea><placeName><settlement type="city">San Diego</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Akawi, Nadia A" sort="Akawi, Nadia A" uniqKey="Akawi N" first="Nadia A" last="Akawi">Nadia A. Akawi</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates</nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain</wicri:regionArea><wicri:noRegion>Al-Ain</wicri:noRegion></affiliation></author><author><name sortKey="Gleeson, Joseph G" sort="Gleeson, Joseph G" uniqKey="Gleeson J" first="Joseph G" last="Gleeson">Joseph G. Gleeson</name><affiliation wicri:level="3"><nlm:aff id="I2">Department of Paediatrics and Neurosciences, University of California, San Diego, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Paediatrics and Neurosciences, University of California, San Diego</wicri:regionArea><placeName><settlement type="city">San Diego</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name><affiliation wicri:level="1"><nlm:aff id="I3">Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates</nlm:aff><country xml:lang="fr">Émirats arabes unis</country><wicri:regionArea>Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain</wicri:regionArea><wicri:noRegion>Al-Ain</wicri:noRegion></affiliation></author></analytic><series><title level="j">Orphanet Journal of Rare Diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title><bold>Background</bold></title><p>We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26.</p></sec><sec><title><bold>Methods</bold></title><p>In this manuscript, we have used whole exome sequencing on two affected members of a consanguineous family with this condition and carried out detailed bioinformatics analysis to elucidate the causative mutation.</p></sec><sec><title><bold>Results</bold></title><p>Our analysis resulted in the identification of a homozygous p.N1060S missense mutation in a highly conserved residue in KIF7, a regulator of Hedgehog signaling that has been recently found to be causing Joubert syndrome, fetal hydrolethalus and acrocallosal syndromes. The phenotype in our patients partially overlaps with the phenotypes associated with those syndromes but they also exhibit some distinctive features including multiple epiphyseal dysplasia.</p></sec><sec><title><bold>Conclusions</bold></title><p>We report the first missense homozygous disease-causing mutation in <italic>KIF7</italic> and expand the clinical spectrum associated with mutations in this gene to include multiple epiphyseal dysplasia. The missense nature of the mutation might account for the unique presentation in our patients.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Lachman, Rs" uniqKey="Lachman R">RS Lachman</name></author><author><name sortKey="Krakow, D" uniqKey="Krakow D">D Krakow</name></author><author><name sortKey="Cohn, Dh" uniqKey="Cohn D">DH Cohn</name></author><author><name sortKey="Rimoin, Dl" uniqKey="Rimoin D">DL Rimoin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Unger, S" uniqKey="Unger S">S Unger</name></author><author><name sortKey="Bonafe, L" uniqKey="Bonafe L">L Bonafé</name></author><author><name sortKey="Superti Furga, A" uniqKey="Superti Furga A">A Superti-Furga</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Katoh, Y" uniqKey="Katoh Y">Y Katoh</name></author><author><name sortKey="Katoh, M" uniqKey="Katoh M">M 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Henderson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Koziel, L" uniqKey="Koziel L">L Koziel</name></author><author><name sortKey="Wuelling, M" uniqKey="Wuelling M">M Wuelling</name></author><author><name sortKey="Schneider, S" uniqKey="Schneider S">S Schneider</name></author><author><name sortKey="Vortkamp, A" uniqKey="Vortkamp A">A Vortkamp</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wilson, Cw" uniqKey="Wilson C">CW Wilson</name></author><author><name sortKey="Nguyen, Ct" uniqKey="Nguyen C">CT Nguyen</name></author><author><name sortKey="Chen, Mh" uniqKey="Chen M">MH Chen</name></author><author><name sortKey="Yang, Jh" uniqKey="Yang J">JH Yang</name></author><author><name sortKey="Gacayan, R" uniqKey="Gacayan R">R Gacayan</name></author><author><name sortKey="Huang, J" uniqKey="Huang J">J Huang</name></author><author><name sortKey="Chen, Jn" uniqKey="Chen J">JN Chen</name></author><author><name sortKey="Chuang, Pt" uniqKey="Chuang P">PT Chuang</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Émirats arabes unis</li><li>États-Unis</li></country><region><li>Californie</li></region><settlement><li>San Diego</li></settlement></list><tree><country name="Émirats arabes unis"><noRegion><name sortKey="Ali, Bassam R" sort="Ali, Bassam R" uniqKey="Ali B" first="Bassam R" last="Ali">Bassam R. Ali</name></noRegion><name sortKey="Akawi, Nadia A" sort="Akawi, Nadia A" uniqKey="Akawi N" first="Nadia A" last="Akawi">Nadia A. Akawi</name><name sortKey="Al Gazali, Lihadh" sort="Al Gazali, Lihadh" uniqKey="Al Gazali L" first="Lihadh" last="Al-Gazali">Lihadh Al-Gazali</name></country><country name="États-Unis"><region name="Californie"><name sortKey="Silhavy, Jennifer L" sort="Silhavy, Jennifer L" uniqKey="Silhavy J" first="Jennifer L" last="Silhavy">Jennifer L. Silhavy</name></region><name sortKey="Gleeson, Joseph G" sort="Gleeson, Joseph G" uniqKey="Gleeson J" first="Joseph G" last="Gleeson">Joseph G. Gleeson</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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