Xie Wanqin, Zhou Haiyan, Zhou Lin, Gong Yun, Lin Jiwu, Chen Yong
NHC Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
Key Laboratory of Genetics and Birth Health, Family Planning Research Institute of Hunan Province, Changsha, Hunan, China.
J Int Med Res. 2020 Oct;48(10):300060520962292. doi: 10.1177/0300060520962292.
Recessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene () has a reported prevalence of 1/2000 to 1/6000. The present study aimed to characterize the phenotypes and genotypes of two Chinese families with RXLI.
The patients were referred to the Family Planning Research Institute of Hunan Province for genetic counseling. Their skin phenotypes were photographed, and venous blood was drawn and used for chromosomal microarray analysis (CMA).
The skin phenotype of the proband from the first family was characterized by generalized skin dryness and scaling, with noticeable dark brown, polygonal scales on his trunk and extensor surfaces of his extremities. The proband from the second family had an atypical phenotype showing mild skin dryness over his entire body, slight scaling on his abdomen, and small skin fissures on his arms and legs. No mental disability or developmental anomaly was noted in either proband. CMA revealed that both probands carried a 1.4-Mb deletion on chromosome Xp22.31 involving four Online Mendelian Inheritance in Man-listed genes including .
Our findings add knowledge to the genotype and phenotype spectrum of RXLI, which may be helpful in genetic counseling and prenatal diagnosis.
由类固醇硫酸酯酶基因（）缺乏引起的隐性X连锁鱼鳞病（RXLI）的报道患病率为1/2000至1/6000。本研究旨在对两个患有RXLI的中国家系的表型和基因型进行特征分析。
患者被转介至湖南省计划生育研究所进行遗传咨询。拍摄他们的皮肤表型，并采集静脉血用于染色体微阵列分析（CMA）。
第一个家系的先证者皮肤表型的特征为全身性皮肤干燥和脱屑，其躯干和四肢伸侧可见明显的深褐色多边形鳞屑。第二个家系的先证者有非典型表型，表现为全身轻度皮肤干燥，腹部轻度脱屑，手臂和腿部有小的皮肤裂隙。两个先证者均未发现智力残疾或发育异常。CMA显示，两个先证者在Xp22.31染色体上均有一个1.4 Mb的缺失，涉及四个列入《人类孟德尔遗传在线》的基因，包括。
我们的研究结果增加了对RXLI基因型和表型谱的认识，这可能有助于遗传咨询和产前诊断。
