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

Katta M. Girisha, Abdul Mueed Bidchol, Preeti S. Kamath, Krupa H. Shah, Geert R. Mortier, Stefan Mundlos, Hitesh Shah

Research output: Contribution to journalArticle

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)898-906
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number4
DOIs
Publication statusPublished - 2014

Fingerprint

Extremities
Phenotype
Mutation
Hallux
Polydactyly
Metatarsal Bones
Thumb
Terminology
Genes
Postaxial Polydactyly

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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title = "A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia",
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.",
author = "Girisha, {Katta M.} and Bidchol, {Abdul Mueed} and Kamath, {Preeti S.} and Shah, {Krupa H.} and Mortier, {Geert R.} and Stefan Mundlos and Hitesh Shah",
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A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. / Girisha, Katta M.; Bidchol, Abdul Mueed; Kamath, Preeti S.; Shah, Krupa H.; Mortier, Geert R.; Mundlos, Stefan; Shah, Hitesh.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 4, 2014, p. 898-906.

Research output: Contribution to journalArticle

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AU - Girisha, Katta M.

AU - Bidchol, Abdul Mueed

AU - Kamath, Preeti S.

AU - Shah, Krupa H.

AU - Mortier, Geert R.

AU - Mundlos, Stefan

AU - Shah, Hitesh

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AB - 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.

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