دورية أكاديمية
أعرض في EDS

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.

التفاصيل البيبلوغرافية
العنوان: Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
المؤلفون: Hassan HA; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt. heba.amin@yahoo.com., Mazen I; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Elaidy A; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Kamel AK; Department of Human Cytogenetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Eissa NR; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt., Essawi ML; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt.
المصدر: Hormones (Athens, Greece) [Hormones (Athens)] 2024 Jun; Vol. 23 (2), pp. 305-312. Date of Electronic Publication: 2024 Mar 25.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE
أسماء مطبوعة: Publication: <2018-> : [Cham] : Springer International Publishing
Original Publication: Athens, Greece : Hellenic Endocrine Society, [2002]-
مواضيع طبية MeSH: Phenotype* , Receptors, LH*/genetics , Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/diagnosis, Humans ; Male ; Exome Sequencing ; Protein Sorting Signals/genetics ; Mutation, Missense ; Steroid Metabolism, Inborn Errors/genetics ; Alleles ; Testis/abnormalities
مستخلص: 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.
(© 2024. The Author(s).)
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فهرسة مساهمة: Keywords: 33-bases insertion; 46,XY DSD; LCH type II; TMD; WES
المشرفين على المادة: 0 (LHCGR protein, human)
0 (Receptors, LH)
0 (Protein Sorting Signals)
SCR Disease Name: Leydig Cell Hypoplasia
تواريخ الأحداث: Date Created: 20240325 Date Completed: 20240702 Latest Revision: 20240725
رمز التحديث: 20240726
مُعرف محوري في PubMed: PMC11219444
DOI: 10.1007/s42000-024-00546-x
PMID: 38526829
قاعدة البيانات: MEDLINE
الوصف
تدمد:2520-8721
DOI:10.1007/s42000-024-00546-x