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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1
American Journal of Human Genetics, Volume 80, No. 1, Year 2007
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Description
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenotypic expression and associated anomalies, and uncertain inheritance pattern. SHFLD is usually inherited as an autosomal dominant trait with reduced penetrance, although recessive inheritance has also been postulated. We conducted a genomewide linkage analysis, using a 10K SNP array in a large consanguineous family (UR078) from the United Arab Emirates (UAE) who had disease transmission consistent with an autosomal dominant inheritance pattern. The study identified two novel SHFLD susceptibility loci at 1q42.2-q43 (nonparametric linkage [NPL] 9.8, P = .000065) and 6q14.1 (NPL 7.12, P = .000897). These results were also supported by multipoint parametric linkage analysis. Maximum multipoint LOD scores of 3.20 and 3.78 were detected for genomic locations 1q42.2-43 and 6q14.1, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of the SHFLD loci to a region of ∼18.38 cM (8.4 Mb) between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43 and to a region of ∼1.96 cM (4.1 Mb) between rs623155 and rs1547251 on 6q14.1. The study identified two novel loci for the SHFLD phenotype in this UAE family. © 2006 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Naveed, Mohammed
United Arab Emirates, Dubai
Centre for Arab Genomic Studies
Nath, Swapan K.
United States, Oklahoma City
Oklahoma Medical Research Foundation
Gaines, Mathew
United States, Oklahoma City
Oklahoma Medical Research Foundation
Al-Ali, Mahmoud Taleb
United Arab Emirates, Dubai
Centre for Arab Genomic Studies
Al-Khaja, Najib M.
United Arab Emirates, Dubai
Centre for Arab Genomic Studies
Hutchings, David
United States, Oklahoma City
Oklahoma Medical Research Foundation
Golla, Jeffrey
United States, Oklahoma City
Oklahoma Medical Research Foundation
Deutsch, Samuel
Switzerland, Geneva
Université de Genève Faculté de Médecine
Bottani, Armand
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Antonarakis, Stylianos E.
Switzerland, Geneva
Université de Genève Faculté de Médecine
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Ratnamala, Uppala
India, Ahmedabad
Green Cross Voluntary Blood Bank
Radhakrishna, Uppala
Switzerland, Geneva
Université de Genève Faculté de Médecine
Statistics
Citations: 12
Authors: 12
Affiliations: 5
Identifiers
Doi:
10.1086/510724
ISSN:
00029297
Research Areas
Genetics And Genomics
Study Design
Cohort Study