Is the novel SCKL3 at 14q23 the predominant Seckel locus?
| Autor: | Mehmet Okyay Kılınç, Vasiliki Ninidu Ninis, Sibel Aylin Uǧur, Beyhan Tüysüz, Mehmet Seven, Sevim Balcı, Judith Goodship, Aslıhan Tolun |
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| Přispěvatelé: | Çocuk Sağlığı ve Hastalıkları |
| Rok vydání: | 2003 |
| Předmět: |
Adult
Chromosomes Human Pair 14 Genetic Markers Male Genetics & Heredity Biochemistry & Molecular Biology Adolescent Genetic Linkage Chromosome Mapping Syndrome Consanguinity Genetic Heterogeneity Phenotype Haplotypes Intellectual Disability Microcephaly Genetics Humans Abnormalities Multiple Female Child Corrigendum Growth Disorders Genetics (clinical) Microsatellite Repeats |
| Zdroj: | European Journal of Human Genetics. 11:851-857 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5201057 |
| Popis: | Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel locus (SCKL3) at 14q by linkage analysis in 13 Turkish families. In total, 18 affected and 10 unaffected sibs were included in the study. Of the 10 informative families, nine with parental consanguinity and one reportedly nonconsanguineous but with two affected sibs, five were indicative of linkage to the novel locus. One of those families also linked to the SCKL1 locus. A consanguineous family with one affected sib was indicative of linkage to SCKL2. The novel gene locus SCKL3 is 1.18 cM and harbors ménage a trois 1, a gene with a role in DNA repair. |
| Databáze: | OpenAIRE |
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