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Article

Non-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis.

Clinical genetics - 1 Jan 2026

Feng Xingyu, Hu Yao, Wang Xiaojuan, Zhou Lin, Xiong Chulong, Ma Na, Xi Hui

Abstract excerpt

Loss-of-function variants in FREM1 have been demonstrated in Manitoba oculotrichoanal syndrome (MOTA) and bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome, but the broader phenotypic spectrum of FREM1 variants remains incompletely characterized. In this study, we report compound heterozygous variants in a prenatal case of bilateral renal agenesis. Exome sequencing revealed biallelic FREM1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40605465
DOI: 10.1111/cge.70016

Genes

FREM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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