AI Article Synopsis
- The study aims to investigate the role of the PROK2 gene in two brothers with normosmic congenital hypogonadotropic hypogonadism (nCHH) after previously discovering mutations in other associated genes.
- Two siblings, along with their family, were analyzed for genetic mutations, with DNA from the PROK2 gene sequenced and compared to controls using different molecular techniques.
- The findings revealed a new mutation in PROK2 (p.R117W) in both brothers, while they also exhibited a known mutation (p.E90K) in the GNRHR gene, highlighting the complexity of genetic factors in this condition.
Article Abstract
Unlabelled: Purpose/aim of the study: To date, different genes have been identified as responsible for the presence of normosmic congenital hypogonadotropic hypogonadism (nCHH). Herein, we report the molecular findings regarding the analysis of PROK2, in two brothers with nCHH.
Subjects And Methods: Two siblings with nCHH, in whom mutations in GNRHR, PROKR2 and FGFR1 had been investigated previously, as well as their family were studied. DNA was amplified by PCR and sequenced for the PROK2 gene. Controls were analyzed by restriction fragment-length polymorphism. The structure of PROK2 and its mutant protein were compared using a protein molecular model.
Results: Both affected siblings exhibited a heterozygous p.R117W mutation in PROK2, while their mother was a heterozygous carrier and their father, an unaffected brother and their sister were homozygous wild type. Besides, both patients presented a homozygous p.E90K mutation in GNRHR that had been previously reported.
Conclusions: We found a novel mutation in PROK2 in two siblings in whom a mutation in the GNRHR gene had been previously reported.
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| http://dx.doi.org/10.3109/07435800.2014.982327 | DOI Listing |
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