Evidence map›Paper›PMID 40176789›Full record

ArticleFrontiers in genetics2025

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.

Jingqun Mai, Zhu Zhang, Bocheng Xu, Shanling Liu, He Wang, Hao Wang, Shuo Yang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Jingqun MaiDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Zhu ZhangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Bocheng XuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Shanling LiuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
He WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Hao WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Shuo YangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with phenotypic and genetic heterogeneity, characterized by oculocutaneous albinism, bleeding diathesis, and other specific subtypes such as colitis. HPS3 is caused by biallelic mutations in Case summary: We report a case of an 11-year-old male patient who experienced chronic diarrhea and abdominal pain for a duration of 1 year, in the absence of identifiable predisposing factors. Colonoscopy and histopathological evaluations revealed extensive colonic inflammation characterized by erosion and lymphoid hyperplasia. Given the concurrent presence of albinism, horizontal nystagmus, and inflammatory bowel disease (IBD), molecular genetic testing was conducted, which is consistent with a diagnosis of Hermansky-Pudlak syndrome (HPS). Trio-based whole-exome sequencing (Trio-WES) identified a novel homozygous nonsense variant (NM_032383.5; c.2887G > T, p.E963*) in Conclusion: We present a rare case of HPS-related IBD resulting from a homozygous variant in

Indexed as

colitisexome sequencingGlucocorticoidsHermansky-Pudlak syndromeHPS3inflammatory bowel disease

Identifiers

PMID40176789
PMCPMC11961956

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.