Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report

Rana Almutairi; Sara Alrashidi; Muhammed Umair; Maha Alshalan; Lamia Alsubaie; Taghrid Aloraini; Ahmed Al Ahmad; Ahmed Alfares; Fuad Al Mutairi

doi:10.24911/JBCGenetics/183-1585821994

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Case Report
Online Published: 26 May 2020

JBCGenetics. 2020; 3(1): 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

Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi.

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.

Key words: Congenital myopathy, FHL1, hypotonia, congenital fiber-type disproportion myopathy, and X-linked myopathy

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Pubmed Style

Almutairi R, Alrashidi S, Umair M, Alshalan M, Alsubaie L, Aloraini T, Ahmad AA, Alfares A, Mutairi FA. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report. JBCGenetics. 2020; 3(1): 45-51. doi:10.24911/JBCGenetics/183-1585821994

Web Style

Almutairi R, Alrashidi S, Umair M, Alshalan M, Alsubaie L, Aloraini T, Ahmad AA, Alfares A, Mutairi FA. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report. https://www.jbcgenetics.com/?mno=96509 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1585821994

AMA (American Medical Association) Style

Almutairi R, Alrashidi S, Umair M, Alshalan M, Alsubaie L, Aloraini T, Ahmad AA, Alfares A, Mutairi FA. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report. JBCGenetics. 2020; 3(1): 45-51. doi:10.24911/JBCGenetics/183-1585821994

Vancouver/ICMJE Style

Almutairi R, Alrashidi S, Umair M, Alshalan M, Alsubaie L, Aloraini T, Ahmad AA, Alfares A, Mutairi FA. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report. JBCGenetics. (2020), [cited November 14, 2024]; 3(1): 45-51. doi:10.24911/JBCGenetics/183-1585821994

Harvard Style

Almutairi, R., Alrashidi, . S., Umair, . M., Alshalan, . M., Alsubaie, . L., Aloraini, . T., Ahmad, . A. A., Alfares, . A. & Mutairi, . F. A. (2020) Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report. JBCGenetics, 3 (1), 45-51. doi:10.24911/JBCGenetics/183-1585821994

Turabian Style

Almutairi, Rana, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, and Fuad Al Mutairi. 2020. Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report. Journal of Biochemical and Clinical Genetics, 3 (1), 45-51. doi:10.24911/JBCGenetics/183-1585821994

Chicago Style

Almutairi, Rana, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, and Fuad Al Mutairi. "Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report." Journal of Biochemical and Clinical Genetics 3 (2020), 45-51. doi:10.24911/JBCGenetics/183-1585821994

MLA (The Modern Language Association) Style

Almutairi, Rana, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, and Fuad Al Mutairi. "Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report." Journal of Biochemical and Clinical Genetics 3.1 (2020), 45-51. Print. doi:10.24911/JBCGenetics/183-1585821994

APA (American Psychological Association) Style

Almutairi, R., Alrashidi, . S., Umair, . M., Alshalan, . M., Alsubaie, . L., Aloraini, . T., Ahmad, . A. A., Alfares, . A. & Mutairi, . F. A. (2020) Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report. Journal of Biochemical and Clinical Genetics, 3 (1), 45-51. doi:10.24911/JBCGenetics/183-1585821994

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