A Missense Variant in the IKZF2 Gene Identified in a Genetically Undiagnosed Family With Hearing Loss DOI Creative Commons
Teng Zhang, Qiang Li,

Hanjun Wang

и другие.

American Journal of Medical Genetics Part A, Год журнала: 2025, Номер unknown

Опубликована: Янв. 3, 2025

ABSTRACT Hearing loss is one of the conditions characterized by a high degree genetic heterogeneity, and whole exome sequencing (WES) serves as key method for identifying pathogenic variants. To date, 155 genes have been reported to be associated with nonsyndromic hearing loss. Recently, study Velde et al. found that IKZF2 (OMIM#606234) gene In our cohort nearly 300 patients undiagnosed who underwent WES, we discovered case harboring variant in gene, specifically c.485A > C (NM_001387220.1). By investigating patient's family history conditions, subsequently employed Sanger validate findings within family, confirming this indeed gene. Our provides further robust evidence supporting association

Язык: Английский

A Missense Variant in the IKZF2 Gene Identified in a Genetically Undiagnosed Family With Hearing Loss DOI Creative Commons
Teng Zhang, Qiang Li,

Hanjun Wang

и другие.

American Journal of Medical Genetics Part A, Год журнала: 2025, Номер unknown

Опубликована: Янв. 3, 2025

ABSTRACT Hearing loss is one of the conditions characterized by a high degree genetic heterogeneity, and whole exome sequencing (WES) serves as key method for identifying pathogenic variants. To date, 155 genes have been reported to be associated with nonsyndromic hearing loss. Recently, study Velde et al. found that IKZF2 (OMIM#606234) gene In our cohort nearly 300 patients undiagnosed who underwent WES, we discovered case harboring variant in gene, specifically c.485A > C (NM_001387220.1). By investigating patient's family history conditions, subsequently employed Sanger validate findings within family, confirming this indeed gene. Our provides further robust evidence supporting association

Язык: Английский

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