A Novel Mutation (g.106737G>T) in Zone of Polarizing Activity Regulatory Sequence (ZRS) Causes Variable Limb Phenotypes in Werner Mesomelia

Girisha, KM and Bidchol, Abdul Mueed and Kamath, Preeti S and Shah, Krupa H and Shah, Hitesh (2014) A Novel Mutation (g.106737G>T) in Zone of Polarizing Activity Regulatory Sequence (ZRS) Causes Variable Limb Phenotypes in Werner Mesomelia. American Journal Of Medical Genetics Part-A, 9999. pp. 1-9.

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Abstract

Werner mesomelia is characterized by a sequence variation in the specific region (position 404) of the enhancer ZRS of SHH. The phenotype comprises variable mesomelia, abnormalities of the thumb and great toe and supernumerary digits. We describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene. The newly recognized clinical features in this family include small thenar eminence, sandal gap, broad first metatarsals, mesoaxial polydactyly, and postaxial polydactyly. We provide information on 12 affected family members. We review the literature on how a sequence variation in ZRS may cause such diverse phenotypes.

Item Type: Article
Uncontrolled Keywords: Preaxial polydactyly; triphalangeal thumb; mesoaxial polydactyly; postaxial polydactyly; five fingered hand; mesomelia; tibial hemimelia; small thenar eminence.
Subjects: Medicine > KMC Manipal > Orthopaedics
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 05 Feb 2014 04:39
Last Modified: 02 Jul 2014 04:30
URI: http://eprints.manipal.edu/id/eprint/138671

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