Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
نویسندگان
چکیده
منابع مشابه
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.
Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements. Regulatory elements are notoriously difficult to locate and may reside at considerable distances from the transcription units on which they operate and, moreover, may be incorporated into the structure of neighbouring genes. The importance of regulatory mutations as the b...
متن کاملDirect functional consequences of ZRS enhancer mutation combine with secondary long range SHH signalling effects to cause preaxial polydactyly
Sonic hedgehog (SHH) plays a central role in patterning numerous embryonic tissues including, classically, the developing limb bud where it controls digit number and identity. This study utilises the polydactylous Silkie (Slk) chicken breed, which carries a mutation in the long range limb-specific regulatory element of SHH, the ZRS. Using allele specific SHH expression analysis combined with qu...
متن کاملDisruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch (Ssq). The genetic lesions in both lie within the same respective...
متن کاملPhenotypic analysis of triphalangeal thumb and associated hand malformations.
Triphalangeal thumb (TPT), a long, finger-like thumb with three phalanges instead of two, is regarded as a subtype of preaxial polydactyly. It can occur as a sporadic disorder, but is more often seen as a dominant familial trait. We describe four white Dutch families in which triphalangeal thumb has variable expression and is sometimes associated with preaxial extra rays, rudimentary postaxial ...
متن کاملA novel acropectoral syndrome maps to chromosome 7q36.
F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and a...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2007
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.31563