Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker

Sarfarazi, Mansoor; Akarsu, AN; Bs, Sayli

doi:10.1093/hmg/4.8.1453

Cited by 39 publications

(22 citation statements)

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“…Particular genes have been located on the 5’ region of the A- and D- clusters of human chromosomes 7 and 2 respectively [41]. These genes appear to influence limb patterning and of particular interest is the Homeobox D gene (HOXD), in particular related to the loci at 2q31 [65]. …”

Section: Syndactyly: the Genetic Search And A Problem For Clinical CLmentioning

confidence: 99%

The Epidemiology, Genetics and Future Management of Syndactyly

Jordan¹,

Hindocha²,

Dhital³

et al. 2012

TOORTHJ

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Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance.There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary.Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway.Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience.Currently, management is surgical, with a technique unchanged for several decades, although future development will hopefully bring alternatives in both earlier diagnosis and gene manipulation for therapy.

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Section: Syndactyly: the Genetic Search And A Problem For Clinical CLmentioning

confidence: 99%

The Epidemiology, Genetics and Future Management of Syndactyly

Jordan¹,

Hindocha²,

Dhital³

et al. 2012

TOORTHJ

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“…Synpolydactyly (SPD) locus has been mapped to the 2q31 region, approximately 1.2 cM centromeric to the IIOXD8 intragenic marker in one large Turkish kindred (Sarfarazi et al, 1995b). This assignment has subsequently been confirmed in a second Turkish (Abstract 11) and a Mexican kindred.…”

Section: Synpolydactyly (Syndactyly Type Ii) (Spd)mentioning

confidence: 89%

Report of the Fourth International Workshop on Human Chromosome 2 Mapping 1996

Spurr¹,

Naylor²

1996

Cytogenet Genome Res

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“…Highly polymorphic simple sequence repeats comprising six loci containing candidate genes (Table II) were identified either by literature review [Sarfarazi et al, 1995;Lin et al, 1996;Li et al, 1997] or by searching the physical map, radiation hybrid map, and linkage map databases accessible through the National Center for Biotechnology Information (http://www. ncbi.nlm.nih.gov/).…”

Section: Molecular Studiesmentioning

confidence: 99%

Clinical and molecular studies of brachydactyly type D

Robin¹,

Hurvitz²,

Warman³

et al. 1999

Am. J. Med. Genet.

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We report on the clinical manifestations in six affected individuals from a four-generation family that segregates brachydactyly type D (BDD). All affected individuals have either bilateral and symmetric or unilateral first distal phalangeal hypoplasia. Metacarpal-phalangeal profiles show that some affected individuals also have a more generalized involvement of the apical skeleton. However, other than first distal phalangeal hypoplasia, there is no consistent pattern of associated skeletal involvement. Linkage analyses were preformed between the BDD phenotype in this family and six loci known to contain genes involved in apical skeletal patterning. No statistically significant linkage was detected.

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Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker

Cited by 39 publications

References 0 publications

The Epidemiology, Genetics and Future Management of Syndactyly

The Epidemiology, Genetics and Future Management of Syndactyly

Report of the Fourth International Workshop on Human Chromosome 2 Mapping 1996

Clinical and molecular studies of brachydactyly type D

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