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Article

Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families.

BMC medical genomics - 18 Oct 2024

Du Qiang, Zhang Yike, Hong Rujian, Tulamaiti Nuermaimaiti, Abulaiti Maiheba, Awuti Nueraili, Wusiman Wulamu, Alimu Xirinayi, Wusiman Ayinuer, Kadier Nueraihaimaiti, Li Huilin, Zhang Zhifei, Qi Huan, Xia Zhipeng, Abudukeyoumu Ayituersun, Li Huawei, Guo Luo

Abstract excerpt

Over 700 syndromes associated with hearing loss (HL) have been identified. Labyrinthine aplasia, microtia, and microdontia (LAMM syndrome, OMIM: 610706) is a rare HL syndrome characterized by congenital sensorineural HL, labyrinthine aplasia, type I microtia and microdontia, which is caused by biallelic variants in the FGF3 gene. Using Whole-exome sequencing (WES), we identified a novel missense FGF3 variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39425091
DOI: 10.1186/s12920-024-02023-1
PMCID: PMC11487696

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