Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.
Regional Center of Medical Genetics Bihor, 410445 Oradea, Romania.
Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674.
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 gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the 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 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.
格雷格头面多肢体综合征（GCPS）是一种罕见的遗传疾病（约有 200 例报道），其特征为大头畸形、眼距过宽和并指（趾）畸形。大多数报道的 GCPS 病例是由影响 基因（OMIM#175700）的杂合功能丧失突变引起的，而一小部分病例则是由染色体 7p14 上包含 基因的大片段缺失引起的。据我们所知，只有 6 名患者的缺失大小（由基因组坐标给出）和基因含量大于 1Mb，涉及 基因。本报告介绍了一名患有格雷格头面多肢体综合征连续基因综合征（GCP-CGS）的患者，该患者在染色体 7p14.2-p11.2 上存在一个 18Mb 的大片段缺失。为了更准确地比较基因型和表型，我们在文献中回顾了类似的病例。
