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Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

ABSTRACT: Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. After exclusion of a candidate region previously identified for syndactyly type 2 (synpolydactyly), we performed a genomewide linkage analysis in a large German pedigree. We found evidence for linkage of SD1 to polymorphic markers on chromosome 2q34-q36, with a maximum LOD score of 12.40 for marker D2S301. Key recombination events in affected individuals defined a 9.4-cM region between markers D2S2319 and D2S344. The identification of the responsible gene will give further insights into the molecular basis of limb development.

SUBMITTER: Bosse K

PROVIDER: S-EPMC1287194 | biostudies-literature | 2000 Aug

REPOSITORIES: biostudies-literature

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Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

Bosse K K Betz R C RC Lee Y A YA Wienker T F TF Reis A A Kleen H H Propping P P Cichon S S Nöthen M M MM

American journal of human genetics 20000630 2

Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. After exclusion of a candidate region previously identified for syndactyly type 2 (synpolydactyly), we performed a genomewide linkage analysis in a large German pedigree. We found evidence for linkage of SD1 to polymorphic markers on chromosome 2q34-q36, with a maximum LOD score of 12.40 for ma ...[more]

PMID: 10877983

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