| Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form. | |
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MedLine Citation:
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PMID: 20412116 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Keratitis-ichthyosis-deafness (KID) syndrome is an autosomal dominant congenital ectodermal defect characterized by the association of skin lesions, hearing loss and keratitis. Most of the cases appear to be sporadic. KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26. Recently, a lethal form of the disease during the first year of life has been reported in two unrelated Caucasian patients. This rare lethal form is caused by the G45E mutation of GJB2 gene. We here report the first pre-natal molecular genetic diagnosis of the lethal form of KID syndrome relating to a G45E mutation. In the same family, the occurrence of this condition in three other siblings born to African non-consanguineous healthy parents lead to perform pre-natal diagnosis for this last pregnancy. Molecular analysis confirms the diagnosis of the lethal form of KID for the fetus. These results establish the role of germline mosaicism in KID syndrome and warrant careful genetic counseling. Furthermore, analysis of our cases and the literature allowed us to define a characteristic severe neonatal phenotype including facial dysmorphy, severe cornification with massive focal hyperkeratosis of the skin with erythroderma, dystrophic nails, complete atrichia and absence of foreskin. |
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Authors:
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E Sbidian; D Feldmann; J Bengoa; S Fraitag; V Abadie; Y de Prost; C Bodemer; S Hadj-Rabia |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-04-14 |
Journal Detail:
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Title: Clinical genetics Volume: 77 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-06-23 Completed Date: 2010-10-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 587-92 Citation Subset: IM |
Affiliation:
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Department of Dermatology, MAGEC, Necker-Enfants Malades Hospital, AP-HP, Paris, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Deafness / diagnosis*, genetics Female Germ-Line Mutation Humans Ichthyosis / diagnosis*, genetics Keratitis / diagnosis*, genetics Male Mosaicism* Pregnancy Prenatal Diagnosis Syndrome |
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