Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients.
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ABSTRACT:
SUBMITTER: Iivonen AP
PROVIDER: S-EPMC6479198 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Publications
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients.
Iivonen Anna-Pauliina AP Känsäkoski Johanna J Vaaralahti Kirsi K Raivio Taneli T
Endocrine connections 20190501 5
In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain miRNAs in animal models has led to cHH, we sequenced human miRNAs predicted to regulate cHH-related genes (MIR7-3, MIR141, MIR429 and MIR200A-C) in 24 cHH patients with Sanger sequencing. A heterozygous variant in MIR200A (rs202051309; general population frequency of 0.02) was found in one patient. Our results suggest that mutations in the studied mi ...[more]
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