LymphedemaV1, Main, Exploration, bibRecord, 002C19

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Identifieur interne : 002C19 ( Main/Exploration ); précédent : 002C18; suivant : 002C20

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Auteurs : Ghayda M. Mirzaa [États-Unis] ; Laura Enyedi [États-Unis] ; Gretchen Parsons [États-Unis] ; Sarah Collins [États-Unis] ; Livija Medne [États-Unis] ; Carissa Adams [États-Unis] ; Thomas Ward [États-Unis] ; Bradley Davitt [États-Unis] ; Alma Bicknese [États-Unis] ; Elaine Zackai [États-Unis] ; Helga Toriello [États-Unis] ; William B. Dobyns [États-Unis] ; Susan Christian [États-Unis]

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2014.

RBID : PMC:4205200

Descripteurs français

KwdFr :
- Adolescent, Analyse de mutations d'ADN, Cartographie chromosomique, Dysplasie rétinienne (diagnostic), Dysplasie rétinienne (génétique), Encéphale (anatomopathologie), Enfant, Enfant d'âge préscolaire, Exons, Faciès, Femelle, Humains, Hétérozygote, Imagerie par résonance magnétique, Kinésine (génétique), Microcéphalie (diagnostic), Microcéphalie (génétique), Mutation, Mâle, Nourrisson, Phénotype, Syndrome.
MESH :
- anatomopathologie : Encéphale.
- diagnostic : Dysplasie rétinienne, Microcéphalie.
- génétique : Dysplasie rétinienne, Kinésine, Microcéphalie.
- Adolescent, Analyse de mutations d'ADN, Cartographie chromosomique, Enfant, Enfant d'âge préscolaire, Exons, Faciès, Femelle, Humains, Hétérozygote, Imagerie par résonance magnétique, Mutation, Mâle, Nourrisson, Phénotype, Syndrome.

English descriptors

KwdEn :
- Adolescent, Brain (pathology), Child, Child, Preschool, Chromosome Mapping, DNA Mutational Analysis, Exons, Facies, Female, Heterozygote, Humans, Infant, Kinesin (genetics), Magnetic Resonance Imaging, Male, Microcephaly (diagnosis), Microcephaly (genetics), Mutation, Phenotype, Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics), Syndrome.
MESH :
- chemical , genetics : Kinesin.
- diagnosis : Microcephaly, Retinal Dysplasia.
- genetics : Microcephaly, Retinal Dysplasia.
- pathology : Brain.
- Adolescent, Child, Child, Preschool, Chromosome Mapping, DNA Mutational Analysis, Exons, Facies, Female, Heterozygote, Humans, Infant, Magnetic Resonance Imaging, Male, Mutation, Phenotype, Syndrome.

Abstract

The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema, are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on de novo novel mutations of KIF11 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report therefore further expands the clinical and molecular spectrum of KIF11-associated microcephaly.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205200

DOI: 10.1002/ajmg.a.36707
PubMed: 25115524
PubMed Central: 4205200

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Congenital microcephaly and chorioretinopathy due to <italic>de novo</italic>
 heterozygous <italic>KIF11</italic>
 mutations: five novel mutations and review of the literature</title>
<author><name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M." last="Mirzaa">Ghayda M. Mirzaa</name>
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<author><name sortKey="Ward, Thomas" sort="Ward, Thomas" uniqKey="Ward T" first="Thomas" last="Ward">Thomas Ward</name>
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<author><name sortKey="Davitt, Bradley" sort="Davitt, Bradley" uniqKey="Davitt B" first="Bradley" last="Davitt">Bradley Davitt</name>
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<author><name sortKey="Bicknese, Alma" sort="Bicknese, Alma" uniqKey="Bicknese A" first="Alma" last="Bicknese">Alma Bicknese</name>
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<author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name>
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<author><name sortKey="Christian, Susan" sort="Christian, Susan" uniqKey="Christian S" first="Susan" last="Christian">Susan Christian</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Brain (pathology)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Mapping</term>
<term>DNA Mutational Analysis</term>
<term>Exons</term>
<term>Facies</term>
<term>Female</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Kinesin (genetics)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Microcephaly (diagnosis)</term>
<term>Microcephaly (genetics)</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Retinal Dysplasia (diagnosis)</term>
<term>Retinal Dysplasia (genetics)</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Analyse de mutations d'ADN</term>
<term>Cartographie chromosomique</term>
<term>Dysplasie rétinienne (diagnostic)</term>
<term>Dysplasie rétinienne (génétique)</term>
<term>Encéphale (anatomopathologie)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Exons</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Imagerie par résonance magnétique</term>
<term>Kinésine (génétique)</term>
<term>Microcéphalie (diagnostic)</term>
<term>Microcéphalie (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Kinesin</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Encéphale</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Microcephaly</term>
<term>Retinal Dysplasia</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dysplasie rétinienne</term>
<term>Microcéphalie</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Microcephaly</term>
<term>Retinal Dysplasia</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dysplasie rétinienne</term>
<term>Kinésine</term>
<term>Microcéphalie</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Mapping</term>
<term>DNA Mutational Analysis</term>
<term>Exons</term>
<term>Facies</term>
<term>Female</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Analyse de mutations d'ADN</term>
<term>Cartographie chromosomique</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Exons</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Imagerie par résonance magnétique</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Syndrome</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema, are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in <italic>KIF11</italic>
, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on <italic>de novo</italic>
 novel mutations of <italic>KIF11</italic>
 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report therefore further expands the clinical and molecular spectrum of <italic>KIF11</italic>
-associated microcephaly.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Caroline du Nord</li>
<li>Illinois</li>
<li>Michigan</li>
<li>Missouri (État)</li>
<li>Pennsylvanie</li>
<li>Washington (État)</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M." last="Mirzaa">Ghayda M. Mirzaa</name>
</region>
<name sortKey="Adams, Carissa" sort="Adams, Carissa" uniqKey="Adams C" first="Carissa" last="Adams">Carissa Adams</name>
<name sortKey="Bicknese, Alma" sort="Bicknese, Alma" uniqKey="Bicknese A" first="Alma" last="Bicknese">Alma Bicknese</name>
<name sortKey="Christian, Susan" sort="Christian, Susan" uniqKey="Christian S" first="Susan" last="Christian">Susan Christian</name>
<name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
<name sortKey="Davitt, Bradley" sort="Davitt, Bradley" uniqKey="Davitt B" first="Bradley" last="Davitt">Bradley Davitt</name>
<name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<name sortKey="Enyedi, Laura" sort="Enyedi, Laura" uniqKey="Enyedi L" first="Laura" last="Enyedi">Laura Enyedi</name>
<name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name>
<name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M." last="Mirzaa">Ghayda M. Mirzaa</name>
<name sortKey="Parsons, Gretchen" sort="Parsons, Gretchen" uniqKey="Parsons G" first="Gretchen" last="Parsons">Gretchen Parsons</name>
<name sortKey="Toriello, Helga" sort="Toriello, Helga" uniqKey="Toriello H" first="Helga" last="Toriello">Helga Toriello</name>
<name sortKey="Ward, Thomas" sort="Ward, Thomas" uniqKey="Ward T" first="Thomas" last="Ward">Thomas Ward</name>
<name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name>
</country>
</tree>
</affiliations>
</record>

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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

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