Case Report
JBCGenetics. 2020; 3(1): 45-51

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.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1585821994

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


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


Authors
Rana Almutairi
King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
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Sara Alrashidi
King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
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Muhammed Umair
King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia
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Maha Alshalan
Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
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Lamia Alsubaie
King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia
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Taghrid Aloraini
Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
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Ahmed Al Ahmad
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
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Ahmed Alfares
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
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Fuad Al Mutairi
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
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Correspondence to:
. Fuad Al Mutairi, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard- Health Affairs (MNGHA), Riyadh, Saudi Arabia.; almutairifu@ngha.med.sa

Publication history
Received 02 Apr 2020
Revised 01 May 2020
Accepted 15 May 2020
Published online 26 May 2020
Published in print 27 May 2020

How to cite this article

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: October 27, 2020]. 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 October 27, 2020]; 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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