Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.

Autor: Rabea F; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE., El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE., Chekroun I; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE., Khalaf M; Neonatology Department, Al Qassimi Women's & Children's Hospital, Emirates Health Services, Sharjah, UAE., Zaabi NA; Pediatric Department, Fujairah Hospital, Emirates Health Services, Fujairah, UAE., AlZaabi K; Pediatric Department, Kalba Hospital, Emirates Health Services, Sharjah, UAE., ElHalik M; Neonatal Section, Latifa Women & Children Hospital, Dubai Health, Dubai, UAE., Dash S; Neonatal Section, Latifa Women & Children Hospital, Dubai Health, Dubai, UAE., El Saba Y; Department of Neonatology, Dubai Hospital, Dubai Health, Dubai, UAE., Ali A; Neonatology Department, Umm Al Quwain Hospital, Emirates Health Services, Umm Al Quwain, UAE., Abraham S; Department of Neonatology, Abdullah Bin Omran Hospital, Emirates Health Services, Ras Al Khaimah, UAE., Fathi K; Neonatology Department, Al Dhaid Hospital, Emirates Health Services, Sharjah, UAE., Shekhy J; Neonatology Department, Khorfakkan Hospital, Emirates Health Services, Sharjah, UAE., Aswad SG; General-Obs/Gyno Clinic, Tawam Hospital, Al Ain City, Abu Dhabi, UAE., Elbashir H; Neurosceince Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE., Alkuraya F; Departement of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Loney T; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE., Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE., Khayat AA; Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE., Abou Tayoun A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE. Ahmad.Tayoun@dubaihealth.ae.; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE. Ahmad.Tayoun@dubaihealth.ae.
Jazyk: angličtina
Zdroj: Communications medicine [Commun Med (Lond)] 2024 Jun 15; Vol. 4 (1), pp. 119. Date of Electronic Publication: 2024 Jun 15.
DOI: 10.1038/s43856-024-00548-1
Abstrakt: Background: Spinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including a gene therapy, have become available. SMA incidence has not been well-characterized in most Arab countries where rates of consanguinity are high. Understanding SMA disease epidemiology has important implications for screening, prevention, and treatment in those populations.
Methods: We perform SMA diagnostic testing in a clinical multi-national patient cohort (N = 171) referred for hypotonia and/or muscle weakness. In addition, we carry out genetic newborn screening for SMA on 1502 healthy Emirati newborns to estimate the carrier frequency and incidence of the disease in the United Arab Emirates.
Results: Patients referred for SMA genetic testing are mostly Arabs (82%) representing 18 countries. The overall diagnostic yield is 33.9%, which is higher (>50%) for certain nationalities. Most patients (71%) has two SMN2 copies and earlier disease onset. For the first time, we estimate SMA carrier frequency (1.3%) and incidence of the disease (1 in 7122 live births) in the United Arab Emirates. Using birth and marriage rates in two Arab populations (United Arab Emirates and Saudi Arabia), as well as disease incidence in both countries, we show that, besides preventing new cases, premarital genetic screening could potentially result in around $8 to $324 million annual cost savings, respectively, relative to postnatal treatment.
Conclusions: The SMA carrier frequency and incidence we document suggests high potential benefit for universal implementation of premarital genomic screening for a wide range of recessive disorders in Arab populations.
(© 2024. The Author(s).)
Databáze: MEDLINE
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