一种新的X染色体微缺失，其包含先天性半侧发育不全伴鱼鳞病样红皮病和肢体缺陷。

A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

作者信息

Raychaudhury Tanumay, George Renu, Mandal Kausik, Srivastava Vivi M, Thomas Meera, Bornholdt Dorothea, Grzeschik Karl-Heinz, Koehler Angelika

机构信息

Department of Dermatology, Venereology, and Leprosy, Christian Medical College, Vellore, India.

出版信息

Pediatr Dermatol. 2013 Mar-Apr;30(2):250-2. doi: 10.1111/j.1525-1470.2012.01729.x. Epub 2012 Apr 4.

DOI:10.1111/j.1525-1470.2012.01729.x

PMID:22471832

Abstract

We report an unusual phenotype of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome most likely resulting from a novel X-chromosomal microdeletion encompassing the promoter region and exon 1 of the nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein gene, the neighboring gene CETN2, and more than 10 kb of noncoding deoxyribonucleic acid.

摘要

我们报告了一种先天性半侧发育不良伴鱼鳞病样红皮病和肢体缺陷综合征的不寻常表型，最有可能是由一种新的X染色体微缺失导致的，该微缺失包含烟酰胺腺嘌呤二核苷酸磷酸类固醇脱氢酶样蛋白基因的启动子区域和第1外显子、邻近基因CETN2以及超过10 kb的非编码脱氧核糖核酸。