Dataset Information

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

ABSTRACT:

Objective

To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region.

Methods

This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD cases of any age were recruited via the Clinical Analysis and Reporting System (CDARS) using relevant keywords and/or International Classification of Disease (ICD) codes under the HK Hospital Authority or through the personal recollection of treating clinicians among the investigators.

Results

A total of 119 MD patients were recruited and analyzed in the study. The point prevalence of MD in HK was 1.02 in 100,000 people (95% confidence interval 0.81-1.28 in 100,000). 110 patients had molecularly proven MD and the other nine were diagnosed by OXPHOS enzymology analysis or mitochondrial DNA depletion analysis with unknown molecular basis. Pathogenic variants in the mitochondrial genome (72 patients) were more prevalent than those in the nuclear genome (38 patients) in our cohort. The most commonly involved organ system at disease onset was the neurological system, in which developmental delay, seizures or epilepsy, and stroke-like episodes were the most frequently reported presentations. The mortality rate in our cohort was 37%.

Conclusion

This study is a territory-wide overview of the clinical and genetic characteristics of MD patients in a Chinese population, providing the first available prevalence rate of MD in Hong Kong. The findings of this study aim to facilitate future in-depth evaluation of MD and lay the foundation to establish a local MD registry.

SUBMITTER: Wong TS

PROVIDER: S-EPMC9979401 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Publications

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

Wong Tsz-Sum TS Belaramani Kiran M KM Chan Chun-Kong CK Chan Wing-Ki WK Chan Wai-Lun Larry WL Chang Shek-Kwan SK Cheung Sing-Ngai SN Cheung Ka-Yin KY Cheung Yuk-Fai YF Chong Shuk-Ching Josephine SJ Chow Chi-Kwan Jasmine CJ Chung Hon-Yin Brian HB Fan Sin-Ying Florence SF Fok Wai-Ming Joshua WJ Fong Ka-Wing KW Fung Tsui-Hang Sharon TS Hui Kwok-Fai KF Hui Ting-Hin TH Hui Joannie J Ko Chun-Hung CH Kwan Min-Chung MC Kwok Mei-Kwan Anne MA Kwok Sung-Shing Jeffrey SJ Lai Moon-Sing MS Lam Yau-On YO Lam Ching-Wan CW Lau Ming-Chung MC Law Chun-Yiu Eric CE Lee Wing-Cheong WC Lee Han-Chih Hencher HH Lee Chin-Nam CN Leung Kin-Hang KH Leung Kit-Yan KY Li Siu-Hung SH Ling Tsz-Ki Jacky TJ Liu Kam-Tim Timothy KT Lo Fai-Man FM Lui Hiu-Tung HT Luk Ching-On CO Luk Ho-Ming HM Ma Che-Kwan CK Ma Karen K Ma Kam-Hung KH Mew Yuen-Ni YN Mo Alex A Ng Sui-Fun SF Poon Wing-Kit Grace WG Rodenburg Richard R Sheng Bun B Smeitink Jan J Szeto Cheuk-Ling Charing CC Tai Shuk-Mui SM Tse Choi-Ting Alan CA Tsung Li-Yan Lilian LL Wong Ho-Ming June HJ Wong Wing-Yin Winnie WW Wong Kwok-Kui KK Wong Suet-Na Sheila SS Wong Chun-Nei Virginia CV Wong Wai-Shan Sammy WS Wong Chi-Kin Felix CF Wu Shun-Ping SP Wu Hiu-Fung Jerome HJ Yau Man-Mut MM Yau Kin-Cheong Eric KE Yeung Wai-Lan WL Yeung Hon-Ming Jonas HJ Yip Kin-Keung Edwin KE Young Pui-Hong Terence PT Yuan Gao G Yuen Yuet-Ping Liz YL Yuen Chi-Lap CL Fung Cheuk-Wing CW

Orphanet journal of rare diseases 20230302 1

<h4>Objective</h4>To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region.<h4>Methods</h4>This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD cases of any age were recruited via the Clinical Analysis and Reporting ...[more]

PMID: 36859275

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Dataset Information

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

Objective

Methods

Results

Conclusion

Publications

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

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