Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype
Identifieur interne : 007760 ( Main/Exploration ); précédent : 007759; suivant : 007761Clinical report. Microcephaly 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 [États-Unis] ; Joseph L. Demer [États-Unis] ; Richard G. Weleber [États-Unis]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
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- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
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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.
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Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype</title><author><name sortKey="Trzupek, Karmen M" sort="Trzupek, Karmen M" uniqKey="Trzupek K" first="Karmen M." last="Trzupek">Karmen M. Trzupek</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Casey Eye Institute and Department of Ophthalmology, Oregon Health & Science University</s1><s2>Portland, Oregon</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Oregon</region></placeName></affiliation></author><author><name sortKey="Falk, Rena E" sort="Falk, Rena E" uniqKey="Falk R" first="Rena E." last="Falk">Rena E. Falk</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Medical Genetics Institute, Cedars-Sinai Medical Center, UCLA School of Medicine</s1><s2>Los Angeles, California</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Demer, Joseph L" sort="Demer, Joseph L" uniqKey="Demer J" first="Joseph L." last="Demer">Joseph L. Demer</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Jules Stein Eye Institute, UCLA School of Medicine</s1><s2>Los Angeles, California</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Weleber, Richard G" sort="Weleber, Richard G" uniqKey="Weleber R" first="Richard G." last="Weleber">Richard G. Weleber</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Casey Eye Institute and Department of Ophthalmology, Oregon Health & Science University</s1><s2>Portland, Oregon</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Oregon</region></placeName></affiliation></author></analytic><series><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term><term>Chorioretinopathy</term><term>Dysplasia</term><term>Dystrophy</term><term>Germ line</term><term>Human</term><term>Lymphedema</term><term>Microcephaly</term><term>Mosaicism</term><term>Phenotype</term><term>Retina</term><term>Symptomatology</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Microcéphalie</term><term>Choriorétinopathie</term><term>Mosaïcisme</term><term>Lymphoedème</term><term>Dysplasie</term><term>Dystrophie</term><term>Etude cas</term><term>Homme</term><term>Lignée germinale</term><term>Phénotype</term><term>Symptomatologie</term><term>Rétine</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Oregon</li></region></list><tree><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><name sortKey="Demer, Joseph L" sort="Demer, Joseph L" uniqKey="Demer J" first="Joseph L." last="Demer">Joseph L. 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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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