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Article

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.

BMC medical genomics - 2 Apr 2026

Yan Lulu, Liu Yingwen, Zhang Yuxin, Han Chunxiao, Cao Juan, Zou Jinghui, Luo Hongjing, Li Haibo

Abstract excerpt

BACKGROUND: Bifid nose with or without anorectal and renal anomalies (BNAR) is a rare autosomal recessive genetic congenital disorder characterized by bifid nose and renal agenesis, with or without anorectal malformations. Our research identified the genetic factors associated with BNAR in a Chinese pedigree. METHODS: Muscle tissue specimens from the fetus and peripheral blood specimens from the parents were...

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Source

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Identifiers

PMID: 41923049
DOI: 10.1186/s12920-026-02361-2
PMCID: PMC13188615

Genes

FREM1
FRAS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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