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

Orphanet Journal of Rare Diseases

Research

Ho-ming Luk¹  Yuet-ping Liz Yuen²  Sung-shing Jeffrey Kwok³  Han-chih Hencher Lee⁴  Chi-kin Felix Wong⁵  Tsz-ki Jacky Ling⁵  Chun-yiu Eric Law⁵  Fai-man Lo⁶  Wing-yin Winnie Wong⁷  Ho-ming June Wong⁷  Min-chung Kwan⁸  Sing-ngai Cheung⁸  Bun Sheng⁹  Hiu-fung Jerome Wu⁹  Kin-keung Edwin Yip^1,10  Pui-hong Terence Young^1,10  Chi-lap Yuen^1,11  Ting-hin Hui^1,12  Yau-on Lam^1,12  Yuen-ni Mew^1,12  Chun-kong Chan^1,12  Ka-yin Cheung^1,12  Cheuk-ling Charing Szeto^1,12  Kwok-fai Hui^1,12  Karen Ma^1,13  Sin-ying Florence Fan^1,13  Hon-ming Jonas Yeung^1,14  Wai-lun Larry Chan^1,14  Moon-sing Lai^1,15  Siu-hung Li^1,15  Chin-nam Lee^1,16  Ching-on Luk^1,17  Ka-wing Fong^1,17  Kin-hang Leung^1,17  Yuk-fai Cheung^1,17  Gao Yuan^1,18  Shek-kwan Chang^1,18  Hiu-tung Lui^1,19  Kwok-kui Wong^2,20  Choi-ting Alan Tse^2,20  Wai-ming Joshua Fok^2,20  Chun-nei Virginia Wong^2,21  Hon-yin Brian Chung^2,22  Kam-hung Ma^2,23  Chun-hung Ko^2,24  Mei-kwan Anne Kwok^2,25  Cheuk-wing Fung^2,25  Joannie Hui^2,25  Wai-lan Yeung^2,25  Suet-na Sheila Wong^2,25  Kiran M. Belaramani^2,25  Tsui-hang Sharon Fung^2,26  Alex Mo^2,26  Li-yan Lilian Tsung^2,27  Kam-tim Timothy Liu^2,27  Wing-cheong Lee^2,27  Shuk-mui Tai^2,27  Kin-cheong Eric Yau^2,28  Wing-ki Chan^2,28  Sui-fun Ng^2,28  Tsz-sum Wong^2,28  Kit-yan Leung^2,28  Shun-ping Wu^2,29  Chi-kwan Jasmine Chow^2,29  Wing-kit Grace Poon^3,30  Man-mut Yau^3,31  Ming-chung Lau^3,32  Che-kwan Ma^3,32  Shuk-ching Josephine Chong^3,33  Richard Rodenburg^3,34  Jan Smeitink^3,34  Wai-shan Sammy Wong^3,35  Ching-wan Lam^3,36 

[1] Clinical Genetics Service Unit, Hong Kong Children’s Hospital, Hong Kong, SAR, People’s Republic of China;Department of Chemical Pathology, Hong Kong Children’s Hospital, Hong Kong, SAR, People’s Republic of China;Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong, SAR, People’s Republic of China;Department of Chemical Pathology, Princess Margaret Hospital, Hong Kong, SAR, People’s Republic of China;Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, SAR, People’s Republic of China;Department of Health, Clinical Genetic Service, Hong Kong, SAR, People’s Republic of China;Department of Medicine and Geriatrics, Caritas Medical Centre, Hong Kong, SAR, People’s Republic of China;Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals, Hong Kong, SAR, People’s Republic of China;Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine and Therapeutics, Prince of Wales Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine, North District Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine, Queen Mary Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine, Tseung Kwan O Hospital, Hong Kong, SAR, People’s Republic of China;Department of Medicine, Yan Chai Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, People’s Republic of China;Hong Kong Genome Institute, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR, People’s Republic of China;Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medicine Centre, Nijmegen, The Netherlands;Department of Pathology, Queen Elizabeth Hospital, Hong Kong, SAR, People’s Republic of China;Department of Pathology, The University of Hong Kong, Hong Kong, SAR, People’s Republic of China;

关键词: Mitochondrial diseases;    Prevalence;    Hong Kong;   

DOI  :  10.1186/s13023-023-02632-6

 received in 2022-09-01, accepted in 2023-02-06,  发布年份 2023

来源: Springer

【 摘 要 】

ObjectiveTo 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.MethodsThis 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.ResultsA 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%.ConclusionThis 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.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023. corrected publication 2023

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Fig. 9