Case Report
Volume: 3 | Issue: 1 | Published: May 26, 2020 | Pages: 45 - 51 | DOI: 10.24911/JBCGenetics/183-1585821994
Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report
Authors: Rana Almutairi , Sara Alrashidi , Muhammed Umair , Maha Alshalan , Lamia Alsubaie , Taghrid Aloraini , Ahmed Al Ahmad , Ahmed Alfares , Fuad Al Mutairi
Article Info
Authors
Rana Almutairi
King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Sara Alrashidi
King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Muhammed Umair
King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia
Maha Alshalan
Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Lamia Alsubaie
King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia
Taghrid Aloraini
Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Ahmed Al Ahmad
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Ahmed Alfares
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Fuad Al Mutairi
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Publication History
Received: April 02, 2020
Revised: May 01, 2020
Accepted: May 15, 2020
Published: May 26, 2020
Abstract
Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory insufficiency and feeding difficulties. Case presentation: Here, we report an 8-year-old boy having hypotonia and signs of respiratory insufficiency that ended with tracheostomy and ventilator-dependent status. Muscle biopsy showed histological findings of congenital fiber-type disproportion myopathy. The whole exome sequencing revealed a novel hemizygous missense variant (c.530A > C p.Gln177Pro) that confirms the diagnosis of FHL1-associated congenital myopathy. Conclusion: The findings in this study help to expand the genetic and mutational spectrum of the FHL1 gene associated with respiratory insufficiency and help in formulating a precise strategy for prognosis and future management of patients.
Keywords: Congenital myopathy, FHL1, hypotonia, congenital fiber-type disproportion myopathy, and X-linked myopathy
