ArticleAmerican journal of human genetics2007
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.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 35 citations in OpenAlex.
- Article
- Review
- Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.Molecular syndromology · 2020Article
- 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.Orphanet journal of rare diseases · 2018Article
- Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Article
- Article
- Digenic inheritance in medical genetics.Journal of medical genetics · 2013Review
- 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).European journal of human genetics : EJHG · 2011Article
- KinSNP software for homozygosity mapping of disease genes using SNP microarrays.Human genomics · 2010Article
- Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation.Journal of children's orthopaedics · 2010Article
- 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.European journal of human genetics : EJHG · 2009Article
- Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.European journal of human genetics : EJHG · 2009Article
- A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2009Article
- Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.Journal of children's orthopaedics · 2008Article
- A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.Human genetics · 2008Article
- A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.Human genetics · 2007Article
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12 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
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 approximately 18.38 cM (8.4 Mb) between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43 and to a region of approximately 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.
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