Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Department of Pediatrics, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Genes (Basel). 2023 Oct 10;14(10):1925. doi: 10.3390/genes14101925.
X-linked recessive ichthyosis (XLI) is clinically characterized by dark brown, widespread dryness with polygonal scales. We describe the identification of and deletions using targeted panel sequencing combined with copy-number variation (CNV) analysis in XLI. A 9-month-old infant was admitted for genetic counseling. Since the second day after birth, the infant's skin tended to be dry and polygonal scales had accumulated over the abdomen and upper extremities. The infant's maternal uncle and brother (who had also exhibited similar skin symptoms from birth) presented with polygonal scales on their trunks. CNV analysis revealed a hemizygous deletion spanning 719.3 Kb on chromosome Xp22 (chrX:7,108,996-7,828,312), which included a segment of the gene and exhibited a Z ratio of -2 in the proband. Multiplex ligation-dependent probe amplification (MLPA) confirmed this interstitial Xp22.31 deletion. Our report underscores the importance of implementing CNV screening techniques, including sequencing data analysis and gene dosage assays such as MLPA, to detect substantial deletions that encompass the gene region of Xq22 in individuals suspected of having XLI.
X 连锁隐性鱼鳞病（XLI）的临床特征为深褐色、广泛分布的干燥皮肤，伴有多角形鳞屑。我们通过靶向 panel 测序结合拷贝数变异（CNV）分析鉴定了 XLI 中的 和 缺失。一名 9 个月大的婴儿因遗传咨询入院。自出生后第二天起，婴儿的皮肤就开始干燥，腹部和上肢出现多角形鳞屑。婴儿的舅舅和哥哥（出生时也有类似的皮肤症状）躯干上出现多角形鳞屑。CNV 分析显示，X 染色体 Xp22 上存在一个 719.3kb 的杂合性缺失（chrX：7,108,996-7,828,312），其中包含一段 基因，先证者的 Z 比值为-2。多重连接依赖性探针扩增（MLPA）证实了这种 Xp22.31 染色体间缺失。我们的报告强调了实施 CNV 筛查技术的重要性，包括测序数据分析和基因剂量检测，如 MLPA，以检测疑似 XLI 患者的 Xq22 区域内包含 基因的大片段缺失。
