Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.
Identifieur interne : 003263 ( PubMed/Checkpoint ); précédent : 003262; suivant : 003264Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.
Auteurs : Karmen M. Trzupek [États-Unis] ; Rena E. Falk ; Joseph L. Demer ; Richard G. WeleberSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
Descripteurs français
- KwdFr :
- MESH :
- anatomopathologie : Oeil.
- métabolisme : Cellules germinales.
- Dysplasie rétinienne, Enfant, Enfant d'âge préscolaire, Femelle, Fratrie, Humains, Microcéphalie, Mosaïcisme, Mâle, Phénotype.
English descriptors
- KwdEn :
- MESH :
- complications : Microcephaly, Retinal Dysplasia.
- metabolism : Germ Cells.
- pathology : Eye.
- Child, Child, Preschool, Female, Humans, Male, Mosaicism, Phenotype, Siblings.
Abstract
Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism.
DOI: 10.1002/ajmg.a.31717
PubMed: 17486591
Affiliations:
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Demer</name></author><author><name sortKey="Weleber, Richard G" sort="Weleber, Richard G" uniqKey="Weleber R" first="Richard G" last="Weleber">Richard G. 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The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17486591</PMID><DateCreated><Year>2007</Year><Month>05</Month><Day>28</Day></DateCreated><DateCompleted><Year>2007</Year><Month>08</Month><Day>03</Day></DateCompleted><DateRevised><Year>2008</Year><Month>05</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1552-4825</ISSN><JournalIssue CitedMedium="Print"><Volume>143A</Volume><Issue>11</Issue><PubDate><Year>2007</Year><Month>Jun</Month><Day>01</Day></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.</ArticleTitle><Pagination><MedlinePgn>1218-22</MedlinePgn></Pagination><Abstract><AbstractText>Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. 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Demer</name><name sortKey="Falk, Rena E" sort="Falk, Rena E" uniqKey="Falk R" first="Rena E" last="Falk">Rena E. Falk</name><name sortKey="Weleber, Richard G" sort="Weleber, Richard G" uniqKey="Weleber R" first="Richard G" last="Weleber">Richard G. Weleber</name></noCountry><country name="États-Unis"><region name="Oregon"><name sortKey="Trzupek, Karmen M" sort="Trzupek, Karmen M" uniqKey="Trzupek K" first="Karmen M" last="Trzupek">Karmen M. Trzupek</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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