Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

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 <i>GLI3</i> gene (...

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Autores principales:	Kinga Kozma, Marius Bembea, Claudia M. Jurca, Mihai Ioana, Ioana Streață, Simona Ş. Şoşoi, Andrei Pirvu, Codruța D. Petchesi, Ariana Szilágyi, Cristian N. Sava, Alexandru Jurca, Anikó Ujfalusi, Zsuzsanna Szűcs, Katalin Szakszon
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Greig cephalopolysyndactyly Greig cephalopolysyndactyly contiguous gene syndrome array-CGH structural chromosomal anomalies deletion 7p Genetics QH426-470
Acceso en línea:	https://doaj.org/article/e2105db323714f18b0e4e126b9077f27
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spelling	oai:doaj.org-article:e2105db323714f18b0e4e126b9077f272021-11-25T17:40:38ZGreig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review10.3390/genes121116742073-4425https://doaj.org/article/e2105db323714f18b0e4e126b9077f272021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1674https://doaj.org/toc/2073-4425Greig 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 <i>GLI3</i> gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the <i>GLI3</i> 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 <i>GLI3</i> 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.Kinga KozmaMarius BembeaClaudia M. JurcaMihai IoanaIoana StreațăSimona Ş. ŞoşoiAndrei PirvuCodruța D. PetchesiAriana SzilágyiCristian N. SavaAlexandru JurcaAnikó UjfalusiZsuzsanna SzűcsKatalin SzakszonMDPI AGarticleGreig cephalopolysyndactylyGreig cephalopolysyndactyly contiguous gene syndromearray-CGHstructural chromosomal anomaliesdeletion 7pGeneticsQH426-470ENGenes, Vol 12, Iss 1674, p 1674 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Greig cephalopolysyndactyly Greig cephalopolysyndactyly contiguous gene syndrome array-CGH structural chromosomal anomalies deletion 7p Genetics QH426-470
spellingShingle	Greig cephalopolysyndactyly Greig cephalopolysyndactyly contiguous gene syndrome array-CGH structural chromosomal anomalies deletion 7p Genetics QH426-470 Kinga Kozma Marius Bembea Claudia M. Jurca Mihai Ioana Ioana Streață Simona Ş. Şoşoi Andrei Pirvu Codruța D. Petchesi Ariana Szilágyi Cristian N. Sava Alexandru Jurca Anikó Ujfalusi Zsuzsanna Szűcs Katalin Szakszon Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
description	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 <i>GLI3</i> gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the <i>GLI3</i> 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 <i>GLI3</i> 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.
format	article
author	Kinga Kozma Marius Bembea Claudia M. Jurca Mihai Ioana Ioana Streață Simona Ş. Şoşoi Andrei Pirvu Codruța D. Petchesi Ariana Szilágyi Cristian N. Sava Alexandru Jurca Anikó Ujfalusi Zsuzsanna Szűcs Katalin Szakszon
author_facet	Kinga Kozma Marius Bembea Claudia M. Jurca Mihai Ioana Ioana Streață Simona Ş. Şoşoi Andrei Pirvu Codruța D. Petchesi Ariana Szilágyi Cristian N. Sava Alexandru Jurca Anikó Ujfalusi Zsuzsanna Szűcs Katalin Szakszon
author_sort	Kinga Kozma
title	Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
title_short	Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
title_full	Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
title_fullStr	Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
title_full_unstemmed	Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
title_sort	greig cephalopolysyndactyly contiguous gene syndrome: case report and literature review
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/e2105db323714f18b0e4e126b9077f27
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Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

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