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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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GLI3-related polydactyly: a review.

M M Al-Qattan1, H E Shamseldin2, M A Salih3

  • 1Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Clinical Genetics
|February 23, 2017
PubMed
Summary
This summary is machine-generated.

GLI3 gene mutations cause various polydactyly syndromes. This review proposes classifying these conditions into four distinct entities based on polydactyly patterns, aiding diagnosis.

Keywords:
GLI3Greig cephalopolysyndactylyPallister-Hallpolydactyly

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • GLI3 mutations are linked to numerous syndromes featuring polydactyly.
  • Understanding the embryology and pathogenesis of GLI3-related polydactyly is crucial.

Purpose of the Study:

  • To review the embryology, pathogenesis, and animal models of GLI3-related polydactyly.
  • To analyze genotype-phenotype correlations for GLI3-related conditions.
  • To propose a revised classification of GLI3-related syndromes.

Main Methods:

  • Comprehensive literature review.
  • Analysis of clinical experiences and case studies.
  • Examination of animal models and embryological data.

Main Results:

  • GLI3 mutations are associated with nine polydactyly-related conditions.
  • A classification into four distinct entities is proposed: preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome.
  • A novel GLI3 mutation causing PHS was identified.

Conclusions:

  • GLI3-related syndromes should be viewed as four separate entities based on polydactyly patterns.
  • The term 'Forme Fruste' preaxial polydactyly is introduced.
  • Current diagnostic criteria for PHS may require revision.