A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. Issue 4 (29th January 2014)

• Record Type: Journal Article
• Authors: Girisha, Katta M.; Bidchol, Abdul Mueed; Kamath, Preeti S.; Shah, Krupa H.; Mortier, Geert R.; Mundlos, Stefan; Shah, Hitesh
• Is Part Of: American journal of medical genetics. Volume 164:Issue 4(2014.)
• Page Start: 898
• Page End: 906
• Publication Date: 2014-01-29
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36367
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36367-sec-0001" sec-type="section"> <p>Werner mesomelia is characterized by a sequence variation in the specific region (position 404) of the enhancer ZRS of <italic>SHH</italic>. 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&gt;T (traditional nomenclature: ZRS404G&gt;T) in the ZRS within the <italic>LMBR1</italic> 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. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>