Pan Yuhua, Xu Huiyong, Zeng Ming, Liang Guanxia, He Fei, Yang Zihan, Xiong Fu, Dong Xingsheng
Department of Endodontics, Stomatological Hospital, School of Stomatology, Southern Medical University, Guangzhou, Guangdong, China.
Department of Medical Genetics, Experimental Education, Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Arch Dermatol Res. 2025 Mar 22;317(1):611. doi: 10.1007/s00403-025-03796-w.
Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous group of congenital disorders characterized by aberrant skin cornification and diffuse skin scaling. Most neonates with ARCI are collodion babies. Herein, we recruited a Chinese family with one patient, who died as a collodion baby one month after birth. Heterozygous mutations of c.424 C > T and c.1385 C > T in the TGM1 were detected in the proband by Chip capture high-throughput sequencing, and the two alleles were inherited from the mother and father, respectively. While the mother was pregnant with another child, her chorionic villus and amniotic fluid were used for prenatal diagnosis to detect potential mutated genes. It was found that the fetus only carried the c.424 C > T mutation of the TGM1 gene thus, the pregnancy continued and a healthy, full-term boy was born. Our research broadens the spectrum of ARCI-related pathogenic TGM1 mutations and performs prenatal genetic testing to avoid terminating unnecessary pregnancies.
常染色体隐性先天性鱼鳞病（ARCI）是一组罕见的、异质性的先天性疾病，其特征为皮肤角化异常和弥漫性皮肤脱屑。大多数患有ARCI的新生儿为胶样婴儿。在此，我们招募了一个中国家庭，该家庭中有一名患者，其出生后一个月作为胶样婴儿死亡。通过芯片捕获高通量测序在先证者中检测到TGM1基因的c.424 C＞T和c.1385 C＞T杂合突变，这两个等位基因分别来自母亲和父亲。当母亲怀有另一个孩子时，采集其绒毛膜绒毛和羊水进行产前诊断以检测潜在的突变基因。结果发现，胎儿仅携带TGM1基因的c.424 C＞T突变，因此，妊娠得以继续，一名健康的足月男婴出生。我们的研究拓宽了与ARCI相关的致病性TGM1突变谱，并进行了产前基因检测以避免终止不必要的妊娠。
