1例下颌面骨发育不全综合征病例。

A case of treacher collins syndrome.

作者信息

Ulusal S, Gürkan H, Vatansever U, Kürkçü K, Tozkir H, Acunaş Ba

机构信息

Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey.

Department of Pediatrics, Trakya University, Faculty of Medicine, Edirne, Turkey.

出版信息

Balkan J Med Genet. 2013 Dec;16(2):77-80. doi: 10.2478/bjmg-2013-0036.

DOI:10.2478/bjmg-2013-0036

PMID:24778568

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4001420/

Abstract

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation.

摘要

特雷彻·柯林斯综合征（TCS）是一种常染色体显性遗传的颅面发育障碍疾病，活产婴儿中的发病率为1/50,000。已发现TCOF1基因突变是导致这种下颌面发育障碍的主要原因。在此，我们报告了一名个体患有TCS，其TCOF1基因第7外显子存在杂合性c.1021_1022delAG缺失（NG_011341.1）。这是第二例因新发c.1021_1022delAG突变导致严重TCS表型的土耳其患者。