Browse by author
Lookup NU author(s): Dr Angela Pyle, Dr Fiona Robertson, Professor Robert Taylor, Professor Bobby McFarlandORCiD
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
© 2024 Wiley Periodicals LLC.Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This work aims to explore the genetic etiology of a cohort of Egyptian pediatric patients who were clinically suspected of having a mitochondrial disorder. A total of 49 patients from 44 unrelated families were studied. Selection criteria included age below 18 years and meeting Morava criteria (a score ≥ 3). The mitochondrial disease criteria (MDC) have been developed to quantify the clinical picture and evaluate the probability of an underlying mitochondrial disorder Exome sequencing, including mitochondrial genome sequencing, was carried out for each participant. Causative variants likely responsible for the phenotypes were identified in 68% of the study population. The mitochondrial subgroup constituted 41% of the studied population with a median age of 4 years. No primary pathogenic variants in mitochondrial DNA were detected. Pathogenic or likely pathogenic variants in eight mitochondrial genes were identified in 78% of the mitochondrial cohort. Additionally, seven novel variants were identified. Nonmitochondrial diagnoses accounted for 27% of the study population. In 32% of cases, disease-causing variants were not identified. The current study underscores the diverse phenotypic and genetic landscape of mitochondrial disorders among Egyptian patients.
Author(s): Hassaan H, Pyle A, Almenabawy N, Robertson F, Elkhateeb N, Girgis M, Mahmoud I, Amer F, Samaha M, Shaheen Y, ElNaggar W, Abdoh D, Mehaney D, Meguid I, Taylor R, McFarland R, Selim L
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics, Part A
Year: 2024
Pages: epub ahead of print
Online publication date: 14/10/2024
Acceptance date: 02/09/2024
ISSN (print): 1552-4825
ISSN (electronic): 1552-4833
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1002/ajmg.a.63881
DOI: 10.1002/ajmg.a.63881
Altmetrics provided by Altmetric
