Congenital muscular dystrophy a case study with a mutation in the POMT1 gene

Muhsin Elmas; Basak Gogus; Dilek Cavusoglu; Ayhan Pektas; Mustafa Solak

doi:10.24911/JBCGenetics/183-1566823566

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Case Report
Online Published: 05 Dec 2019

JBCGenetics. 2019; 2(2): 143-146

doi: 10.24911/JBCGenetics/183-1566823566

Congenital muscular dystrophy a case study with a mutation in the POMT1 gene

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak.

Abstract
Background: The congenital muscular dystrophies (CMD) are a group of heterogeneous diseases, manifested with a wide variety of clinical findings. Dystroglycanopathy is regarded as a subgroup among the CMD group of diseases. POMT1 mutations that cause alpha-dystroglycan hypoglycolization are reported to cause CMD diseases with autosomal recessive inheritance pattern. Case Presentation: A 14-year-old girl patient was referred with classical symptoms for CMDs. Whole exome sequencing (WES) analysis revealed a mutation in the POMT1 gene after the differential diagnosis of the patient. A homozygous mutation detected in the patient diagnosed muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (OMIM 613155). Conclusion: Different mutations in the POMT1 gene have been found to cause three different types of diseases (CMDs). The differential diagnosis for these diseases clinically remains difficult, as a result, detailed clinical evaluation of patients becomes mandatory. Also, a multidisciplinary and collaborative approach involving complete clinical information and anamnesis is essential for the interpretation of genetic test results for such complex disorders.

Key words: Muscular dystrophies; consanguinity, developmental disabilities

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How to Cite this Article

Pubmed Style

Elmas M, Gogus B, Cavusoglu D, Pektas A, Solak M. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. JBCGenetics. 2019; 2(2): 143-146. doi:10.24911/JBCGenetics/183-1566823566

Web Style

Elmas M, Gogus B, Cavusoglu D, Pektas A, Solak M. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. https://www.jbcgenetics.com/?mno=62839 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1566823566

AMA (American Medical Association) Style

Elmas M, Gogus B, Cavusoglu D, Pektas A, Solak M. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. JBCGenetics. 2019; 2(2): 143-146. doi:10.24911/JBCGenetics/183-1566823566

Vancouver/ICMJE Style

Elmas M, Gogus B, Cavusoglu D, Pektas A, Solak M. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. JBCGenetics. (2019), [cited November 14, 2024]; 2(2): 143-146. doi:10.24911/JBCGenetics/183-1566823566

Harvard Style

Elmas, M., Gogus, . B., Cavusoglu, . D., Pektas, . A. & Solak, . M. (2019) Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. JBCGenetics, 2 (2), 143-146. doi:10.24911/JBCGenetics/183-1566823566

Turabian Style

Elmas, Muhsin, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, and Mustafa Solak. 2019. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. Journal of Biochemical and Clinical Genetics, 2 (2), 143-146. doi:10.24911/JBCGenetics/183-1566823566

Chicago Style

Elmas, Muhsin, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, and Mustafa Solak. "Congenital muscular dystrophy a case study with a mutation in the POMT1 gene." Journal of Biochemical and Clinical Genetics 2 (2019), 143-146. doi:10.24911/JBCGenetics/183-1566823566

MLA (The Modern Language Association) Style

Elmas, Muhsin, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, and Mustafa Solak. "Congenital muscular dystrophy a case study with a mutation in the POMT1 gene." Journal of Biochemical and Clinical Genetics 2.2 (2019), 143-146. Print. doi:10.24911/JBCGenetics/183-1566823566

APA (American Psychological Association) Style

Elmas, M., Gogus, . B., Cavusoglu, . D., Pektas, . A. & Solak, . M. (2019) Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. Journal of Biochemical and Clinical Genetics, 2 (2), 143-146. doi:10.24911/JBCGenetics/183-1566823566

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