扩展 LHCGR 信号肽插入变体的表型谱：导致 II 型莱迪希细胞发育不全的新型临床和等位基因发现。
Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
机构信息
Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt.
Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt.
出版信息
Hormones (Athens). 2024 Jun;23(2):305-312. doi: 10.1007/s42000-024-00546-x. Epub 2024 Mar 25.
PURPOSE
Leydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. Patients presented with hypospadias, micropenis, undescended testes, or infertility. In this study, we report a new patient with compound heterozygous variants in the LHCGR gene and LCH type II phenotype.
METHODS
Whole exome sequencing (WES) was performed followed by Sanger sequencing to confirm the detected variants in the patient and his parents.
RESULTS
A novel missense variant (p.Phe444Cys) was identified in a highly conserved site and is verified to be in trans with the signal peptide's 33-bases insertion variant.
CONCLUSION
Our research provides a more comprehensive clinical and genetic spectrum of Leydig cell hypoplasia type II. It highlighted the importance of WES in the diagnosis of this uncommon genetic disorder as well as the expansion of the genotype of LCH type II.
目的
Leydig 细胞发育不全（LCH）Ⅱ型是一种罕见疾病，仅有少数病例报道。患者表现为尿道下裂、小阴茎、隐睾或不育。本研究报道了一例 LHCGR 基因复合杂合变异导致的 LCH Ⅱ型表型的新病例。
方法
对患者及其父母进行全外显子组测序（WES），并通过 Sanger 测序进行确认。
结果
在一个高度保守的位点发现了一个新的错义变异（p.Phe444Cys），该变异与信号肽的 33 个碱基插入变异呈反式。
结论
我们的研究提供了 Leydig 细胞发育不全Ⅱ型更全面的临床和遗传谱。它强调了 WES 在诊断这种罕见遗传疾病中的重要性，以及 LCH Ⅱ型基因型的扩展。
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