Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft LipPalate
Joint Authors
Wang, Tao
Liu, Jihong
Xu, Hao
Niu, Yonghua
Liu, Simin
Xu, Hua
Wang, Shaogang
Ye, Zhangqun
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-25
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP).
In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR) in four KS with CLP patients and six IHH patients without CLP.
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
These two mutations were not presented in their healthy parents and 200 normal controls.
One novel heterozygous missense mutation in KISS1R, (NM_032551): c.587C>A (p.P196H), was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin.
This mutation was also presented in his healthy father and grandfather.
These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene.
American Psychological Association (APA)
Xu, Hao& Niu, Yonghua& Wang, Tao& Liu, Simin& Xu, Hua& Wang, Shaogang…[et al.]. 2015. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft LipPalate. BioMed Research International،Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1056283
Modern Language Association (MLA)
Xu, Hao…[et al.]. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft LipPalate. BioMed Research International No. 2015 (2015), pp.1-9.
https://search.emarefa.net/detail/BIM-1056283
American Medical Association (AMA)
Xu, Hao& Niu, Yonghua& Wang, Tao& Liu, Simin& Xu, Hua& Wang, Shaogang…[et al.]. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft LipPalate. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1056283
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1056283