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Article: A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene

TitleA case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene
Authors
Keywordscongenital idiopathic hypogonadotropic hypogonadism
GNRHR
missense mutation
novel mutation
Issue Date2021
PublisherLippincott, Williams & Wilkins: Various Creative Commons. The Journal's web site is located at http://journals.lww.com/md-journal/pages/default.aspx
Citation
Medicine, 2021, v. 100 n. 5, p. article no. e24007 How to Cite?
AbstractRationale: This study aimed to investigate the genetic mutation characteristics of congenital idiopathic hypogonadotropic hypogonadism (IHH) through the clinical features and genetic analysis of 2 patients with IHH in 1 pedigree. Patient concerns: A 23-year-old girl presented with primary amenorrhea, sparse pubic hair, lack of breast development, and delayed sexual development. Diagnoses: Combined with the clinical characteristics, auxiliary examinations, and molecular genetic analysis, the patient was diagnosed as IHH. Interventions: Whole exome and Sanger sequencing were performed to validate the mutation in family members. Outcomes: A novel homozygous missense mutation c.521A > G (p.Q174R) in the GNRHR gene was identified in the 2 affected sisters. Familial segregation showed that the homozygous variant was inherited from their parents respectively and the eldest sister was the carrier without correlative symptom. Lessons: We reported a novel GNRHR mutation in a pedigree with congenital idiopathic hypogonadotropic hypogonadism. Glutamine at amino acid position 174 was highly conserved among various species. The molecular structure of GNRHR protein showed that p.Q174R mutation brought in a new stable hydrogen bond between position 174 and 215, may impede conformational mobility of the TMD4 and TMD5. It suggests that the missense mutation c.521A > G related to congenital idiopathic hypogonadotropic hypogonadism was probably a causative factor for both sisters. Through high-throughput sequencing and experimental verification, we had basically determined the patient's pathogenic mutation and inheritance, which could better guide doctors for treatment.
Persistent Identifierhttp://hdl.handle.net/10722/297280
ISSN
2019 Impact Factor: 1.552
2015 SCImago Journal Rankings: 0.877
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWang, L-
dc.contributor.authorLin, W-
dc.contributor.authorLi, X-
dc.contributor.authorZhang, L-
dc.contributor.authorWang, K-
dc.contributor.authorCui, X-
dc.contributor.authorTang, S-
dc.contributor.authorFang, G-
dc.contributor.authorTan, Y-
dc.contributor.authorWang, X-
dc.contributor.authorChen, C-
dc.contributor.authorYang, C-
dc.contributor.authorTang, H-
dc.date.accessioned2021-03-08T07:16:43Z-
dc.date.available2021-03-08T07:16:43Z-
dc.date.issued2021-
dc.identifier.citationMedicine, 2021, v. 100 n. 5, p. article no. e24007-
dc.identifier.issn0025-7974-
dc.identifier.urihttp://hdl.handle.net/10722/297280-
dc.description.abstractRationale: This study aimed to investigate the genetic mutation characteristics of congenital idiopathic hypogonadotropic hypogonadism (IHH) through the clinical features and genetic analysis of 2 patients with IHH in 1 pedigree. Patient concerns: A 23-year-old girl presented with primary amenorrhea, sparse pubic hair, lack of breast development, and delayed sexual development. Diagnoses: Combined with the clinical characteristics, auxiliary examinations, and molecular genetic analysis, the patient was diagnosed as IHH. Interventions: Whole exome and Sanger sequencing were performed to validate the mutation in family members. Outcomes: A novel homozygous missense mutation c.521A > G (p.Q174R) in the GNRHR gene was identified in the 2 affected sisters. Familial segregation showed that the homozygous variant was inherited from their parents respectively and the eldest sister was the carrier without correlative symptom. Lessons: We reported a novel GNRHR mutation in a pedigree with congenital idiopathic hypogonadotropic hypogonadism. Glutamine at amino acid position 174 was highly conserved among various species. The molecular structure of GNRHR protein showed that p.Q174R mutation brought in a new stable hydrogen bond between position 174 and 215, may impede conformational mobility of the TMD4 and TMD5. It suggests that the missense mutation c.521A > G related to congenital idiopathic hypogonadotropic hypogonadism was probably a causative factor for both sisters. Through high-throughput sequencing and experimental verification, we had basically determined the patient's pathogenic mutation and inheritance, which could better guide doctors for treatment.-
dc.languageeng-
dc.publisherLippincott, Williams & Wilkins: Various Creative Commons. The Journal's web site is located at http://journals.lww.com/md-journal/pages/default.aspx-
dc.relation.ispartofMedicine-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectcongenital idiopathic hypogonadotropic hypogonadism-
dc.subjectGNRHR-
dc.subjectmissense mutation-
dc.subjectnovel mutation-
dc.titleA case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene-
dc.typeArticle-
dc.identifier.emailWang, X: shelleyw@hku.hk-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1097/MD.0000000000024007-
dc.identifier.pmid33592857-
dc.identifier.pmcidPMC7870162-
dc.identifier.hkuros321576-
dc.identifier.volume100-
dc.identifier.issue5-
dc.identifier.spagearticle no. e24007-
dc.identifier.epagearticle no. e24007-
dc.identifier.isiWOS:000614237200044-
dc.publisher.placeUnited States-

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