Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis,Molecular Genetics & Genomic Medicine

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Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2023-07-19 , DOI: 10.1002/mgg3.2238
Jianxiong Chen _{1,

2} , Youqing Fu ₁ , Yan Sun ₁ , Xinlong Zhou _{1,

2} , Qingming Wang _{1,

3} , Cong Li ₁ , Haiming Yuan _{1,

3}

Affiliation

Biallelic pathogenic variants in the KCNJ16 gene result in hypokalemic tubulopathy and deafness (HKTD) (MIM #619406), which is a rare autosomal recessive disease characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid–base homeostasis, and sensorineural deafness. Currently, nine individuals with HKTD have been reported, and seven pathogenic variants in KCNJ16 have been revealed.

更新日期：2023-07-19

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