Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Author:

Kozma Kinga,Bembea Marius,Jurca Claudia M.,Ioana Mihai,Streață Ioana,Şoşoi Simona Ş.,Pirvu Andrei,Petchesi Codruța D.ORCID,Szilágyi Ariana,Sava Cristian N.ORCID,Jurca Alexandru,Ujfalusi Anikó,Szűcs ZsuzsannaORCID,Szakszon Katalin

Abstract

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the GLI3 gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the GLI3 gene. To our knowledge, only 6 patients have been reported to have a deletion with an exact size (given by genomic coordinates) and a gene content larger than 1 Mb involving the GLI3 gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large, 18 Mb deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype.

Publisher

MDPI AG

Subject

Genetics(clinical),Genetics

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