Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts.

doi:10.1016/j.jgg.2023.03.012

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Article

Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts.

Journal of genetics and genomics = Yi chuan xue bao - 1 Feb 2024

Huang Wenbin, Zhang Shiying, Lin Jiuxiang, Ding Yi, Jiang Nan, Zhang Jieni, Zhao Huaxiang, Chen Feng

Abstract excerpt

Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare...

Topics

Animals
Humans
Mice
Brain
Cleft Lip
Cleft Palate
Filamins
Mammals
Mutation

Source

Open in PubMed

Identifiers

PMID: 37003352
DOI: 10.1016/j.jgg.2023.03.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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