Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing

Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns of inheritance: X linked recessive inheritance, autosomal dominant inheritance and rare autosomal recessive inheritance. Here, we report a sibling pedigree w...

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Bibliographic Details
Published in:Systems biology in reproductive medicine 2018-06, Vol.64 (3), p.202-206
Main Authors: Jin, Bao-Fang, Ji, Zhi-Yong, Su, Zhi-Ying, Mei, Li-Bin, Huang, Xian-Jing, Lin, Shao-Bin, Li, Ping, Sha, Yan-Wei
Format: Article
Language:English
Subjects:
Adult
DNA Mutational Analysis
Female
High-Throughput Nucleotide Sequencing
Humans
Kallmann Syndrome - genetics
Male
Receptor, Fibroblast Growth Factor, Type 1 - genetics
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Summary:Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns of inheritance: X linked recessive inheritance, autosomal dominant inheritance and rare autosomal recessive inheritance. Here, we report a sibling pedigree with autosomal dominant inheritance of KS, and we identified a novel heterozygous frameshift mutation c.299_300insCCGCAGACTCCGGCCTCTATGC (p.C101Rfs*17) in FGFR1 gene using whole-exome sequencing (WES). The mutation and affection status were cosegregated. The mutation is not present in the dbSNP, 1000 Genome, ExAC, and gnomAD databases. The discovery of this new mutation in the FGFR1 gene enriches the spectrum of FGFR1 mutations in patients with KS. FGFR1: fibroblast growth factor receptor 1; HH: hypogonadotropic hypogonadism; KS: Kallmann syndrome; MRI: magnetic resonance imaging; WES: whole-exome sequencing.
ISSN:1939-6368
1939-6376
DOI:10.1080/19396368.2018.1458919