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

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 (c.137G > C, p. Arg46Pro (NM_005247.4) in three unrelated Uyghur ethnic families. This variant is classified as a variant of uncertain significance according to ACMG guidelines, with the applied criteria of PM3, PM2_Supporting, PP3 and PP4. Patients from the three families revealed variable clinical features. We found a novel phenotype, sparse hair, in one of the proband. Our findings expanded the variant and phenotype spectrum of LAMM syndrome and provided new insights to the diagnose and pathogenesis investigation of the disease.

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Publication Details

Journal
BMC Medical Genomics
Published
2024-10-18
DOI
https://doi.org/10.1186/s12920-024-02023-1
Primary Topic
Neonatal Respiratory Health Research
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Qiang Du, Rujian Hong, Zhipeng Xia, Huan Qi et al.
BMC Medical Genomics
Neonatal Respiratory Health Research
article

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

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

Abstract

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 (c.137G > C, p. Arg46Pro (NM_005247.4) in three unrelated Uyghur ethnic families. This variant is classified as a variant of uncertain significance according to ACMG guidelines, with the applied criteria of PM3, PM2_Supporting, PP3 and PP4. Patients from the three families revealed variable clinical features. We found a novel phenotype, sparse hair, in one of the proband. Our findings expanded the variant and phenotype spectrum of LAMM syndrome and provided new insights to the diagnose and pathogenesis investigation of the disease.

BMC Medical GenomicsVol. 17(1)
Cochlear (Australia) (AU), Fudan University (CN), Eye & ENT Hospital of Fudan University (CN), People's Hospital of Xinjiang Uygur Autonomous Region (CN), Xian Yang Central Hospital (CN), Shanghai Center for Brain Science and Brain-Inspired Technology (CN), State Key Laboratory of Medical Neurobiology
Shanghai Municipal Health Commission, National Natural Science Foundation of China, National Key Research and Development Program of China
Openalex Percentile: Top 67%
Neonatal Respiratory Health Research
DOIOpen Access PDFOpenAlex
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