Tibial hemimelia associated with GLI3 truncation

Journal of Human Genetics
Steven DeimlingSevan Hopyan

Abstract

Tibial hemimelia is a rare, debilitating and often sporadic congenital deficiency. In syndromic cases, mutations of a Sonic hedgehog (SHH) enhancer have been identified. Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. This deletion results in a truncated GLI3 protein that lacks a DNA-binding domain and cannot repress hedgehog signaling. These findings strengthen the concept that tibial hemimelia arises because of failure to restrict SHH activity to the posterior aspect of the limb bud.

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Citations

Dec 3, 2016·Journal of Children's Orthopaedics·Dror Paley
Mar 21, 2017·Wiley Interdisciplinary Reviews. Developmental Biology·Hirotaka TaoSevan Hopyan
Oct 11, 2017·Annals of the New York Academy of Sciences·Zeng ZhangDi Chen
Nov 13, 2018·The Journal of the American Academy of Orthopaedic Surgeons·Jody LitrentaMatthew E Oetgen
Apr 5, 2020·Cell Communication and Signaling : CCS·Stephan J Matissek, Sherine F Elsawa
May 26, 2018·Pediatric Radiology·Andy TsaiJames R Kasser
Jan 5, 2017·Pediatric Radiology·Katia Kaplan-ListMichael E Katz
Jul 23, 2020·Endocrine·Ewelina Szczepanek-ParulskaMarek Ruchała

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