Evidence map›Paper›PMID 42449499›Full record

ArticleMolecular genetics & genomic medicine2026

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene.

Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang

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In one paragraph

Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Jiali ChenLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Key Laboratory of Hereditary Rare Diseases of Health Commission of Henan Province, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, the First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.ORCID https://orcid.org/0009-0000-3704-9404
Yujin MaLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Key Laboratory of Hereditary Rare Diseases of Health Commission of Henan Province, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, the First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.ORCID https://orcid.org/0000-0003-2054-3398
Liping LiLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Key Laboratory of Hereditary Rare Diseases of Health Commission of Henan Province, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, the First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.ORCID https://orcid.org/0000-0001-7396-1310
Huifang PengLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Key Laboratory of Hereditary Rare Diseases of Health Commission of Henan Province, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, the First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.ORCID https://orcid.org/0000-0003-2738-2080
Hongwei JiangLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Key Laboratory of Hereditary Rare Diseases of Health Commission of Henan Province, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, the First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.ORCID https://orcid.org/0000-0003-3807-7989

Funding

the Henan Medical Education Research Project Wjlx2022116the Key Project of Science and Technology Research and Development Joint Fund of Henan Province in China 225200810054
6 · The paper itself

Abstract

backgroundIsolated hypogonadotropic hypogonadism (IHH) is a rare endocrine disorder caused by genes such as ANOSI (OMIM*300836), FGFR1 (OMIM*136350), PROK2 (OMIM*607002) and PROKR2 (OMIM*607123) (etc.), leading to downstream dysfunction of pituitary gonadotropin secretion and subsequent impairment of gonadal function. Clinical manifestations include incomplete or partial puberty and infertility. METHODS AND

resultsIn this study, whole-genome sequencing of a female patient with HH identified a novel 5' splice site variant c.285 + 772 T>G in the deep intron of PROK2 (NM_001126128.2). In vitro minigene validation revealed abnormal splicing of this variant, with 69 base pairs retained in intron 3, ultimately leading to changes in protein length, which may lead to changes in protein structure. According to the American College of Medical Genetics and Genomics (ACMG) pathogenicity classification, this variant is rated as likely pathogenic variant (LP).

conclusionPROK2 variants can lead to HH and we report a case with a novel splice site variant that has been confirmed to lead to the retention of 69 base pairs in intron 3 during RNA splicing.

Indexed as

HypogonadismNeuropeptidesAdultFemaleGastrointestinal HormonesHumansIntronsGastrointestinal HormonesNeuropeptidesPROK2 protein, humandeep intronic variantshypogonadotropic hypogonadismminigenesplice‐ site variantwhole genome sequencing

Identifiers

PMID42449499
PMCPMC13369290

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