| Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. | |
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MedLine Citation:
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PMID: 11836359 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one boy were affected with this rare syndrome. The parents were first cousins once removed and unaffected. Genome wide homozygosity mapping using 386 microsatellite markers linked the locus to 20p13. A maximum multipoint lod score of 4.20 was obtained at marker D20S179. The minimal critical region is 7.73 cM between markers D20S199 and D20S437. These results confirm the syndromic association of congenital corneal dystrophy and teenage onset hearing loss, and further increase the genetic heterogeneity of recessive deafness. |
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Authors:
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M J Abramowicz; J Albuquerque-Silva; A Zanen |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of medical genetics Volume: 39 ISSN: 1468-6244 ISO Abbreviation: J. Med. Genet. Publication Date: 2002 Feb |
Date Detail:
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Created Date: 2002-02-11 Completed Date: 2002-03-05 Revised Date: 2008-11-20 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: England |
Other Details:
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Languages: eng Pagination: 110-2 Citation Subset: IM |
Affiliation:
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Laboratoire de Génétique Médicale, Hôpital Erasme-ULB, 808 Route de Lennik, B-1070 Brussels, Belgium. marcabra@ulb.ac.be |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosome Mapping* / methods Corneal Dystrophies, Hereditary / genetics* Deafness / genetics* Female Humans Linkage (Genetics) / genetics Male Nuclear Family Syndrome |
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