Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
Heba Amin Hassan, Inas Mazen, Aya Elaidy, Alaa K Kamel, Noura R Eissa, Mona L Essawi
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引用次数: 0
Abstract
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.
扩大 LHCGR 信号肽插入变体的表型谱：导致 Leydig 细胞发育不全 II 型的新临床和等位基因发现。
目的：莱狄格细胞发育不全（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、睾丸下降或不育。在本研究中，我们报告了一名患有 LHCGR 基因复合杂合变异和 LCH II 型表型的新患者：方法：先进行全外显子组测序（WES），然后进行桑格测序，以确认在患者及其父母体内检测到的变异：结果：在一个高度保守的位点上发现了一个新的错义变异（p.Phe444Cys），并证实该变异与信号肽的33个碱基插入变异是反式的：结论：我们的研究提供了一个更全面的莱狄格细胞发育不全 II 型的临床和遗传谱。结论：我们的研究提供了更全面的 Leydig cell hypoplasia II 型的临床和遗传谱，强调了 WES 在诊断这种不常见遗传疾病以及扩大 LCH II 型基因型方面的重要性。
期刊介绍：
Hormones-International Journal of Endocrinology and Metabolism is an international journal published quarterly with an international editorial board aiming at providing a forum covering all fields of endocrinology and metabolic disorders such as disruption of glucose homeostasis (diabetes mellitus), impaired homeostasis of plasma lipids (dyslipidemia), the disorder of bone metabolism (osteoporosis), disturbances of endocrine function and reproductive capacity of women and men.
Hormones-International Journal of Endocrinology and Metabolism particularly encourages clinical, translational and basic science submissions in the areas of endocrine cancers, nutrition, obesity and metabolic disorders, quality of life of endocrine diseases, epidemiology of endocrine and metabolic disorders.
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