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Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

ABSTRACT: The genotype-phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype-phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0 years, and kidney survival showed significant differences between the non-truncating and truncating groups (P < 0.001, hazard ratio (HR) 2.8) and splicing and truncating groups (P = 0.002, HR 3.1). Sensorineural hearing loss was detected in 65.1% of male patients, while hearing survival periods showed a highly significant difference between the non-truncating and truncating groups (P < 0.001, HR 5.1). In female patients, approximately 20% developed kidney failure at the median age of 50.2 years. The kidney survival was significantly different between the non-truncating and truncating groups (P = 0.006, HR 5.7). Our findings support the presence of genotype-phenotype correlation not only in male patients but also in female patients with XLAS.

SUBMITTER: Kim JH

PROVIDER: S-EPMC10133262 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

Kim Ji Hyun JH Lim Seon Hee SH Song Ji Yeon JY Cho Myung Hyun MH Hyun HyeSun H Yang Eun Mi EM Lee Jung Won JW Cho Min Hyun MH Park Min Ji MJ Lee Joo Hoon JH Jung Jiwon J Yoo Kee Hwan KH Jang Kyung Mi KM Pai Ki Soo KS Suh Jin-Soon JS Namgoong Mee Kyung MK Chung Woo Yeong WY Kim Su Jin SJ Cho Eun Young EY Kim Kyung Min KM Kim Nam Hee NH Kim Minsun M Paik Jin Ho JH Kang Hee Gyung HG Ahn Yo Han YH Cheong Hae Il HI

Scientific reports 20230426 1

The genotype-phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype-phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximatel ...[more]

PMID: 37100867

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Dataset Information

Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

Publications

Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

Similar Datasets

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