JBCGenetics |

Case Report

Volume: 2 | Issue: 2 | Published: Dec 05, 2019 | Pages: 143 - 146 | DOI: 10.24911/JBCGenetics/183-1566823566

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

Authors: Muhsin Elmas , Basak Gogus , Dilek Cavusoglu , Ayhan Pektas , Mustafa Solak

Article Info

Authors

Muhsin Elmas

Afyonkarahisar Health Sciences University, Faculty of Medicine, Medical Genetics Department Afyonkarahisar, Turkey

ORCID

Basak Gogus

Afyonkarahisar Health Sciences University, Faculty of Medicine, Medical Genetics Department Afyonkarahisar, Turkey

Dilek Cavusoglu

Afyonkarahisar Health Sciences University, Faculty of Medicine, Pediatric Department, Afyonkarahisar, Turkey

Ayhan Pektas

Afyonkarahisar Health Sciences University, Faculty of Medicine, Pediatric Department, Afyonkarahisar, Turkey

Mustafa Solak

Afyonkarahisar Health Sciences University, Faculty of Medicine, Medical Genetics Department Afyonkarahisar, Turkey

Publication History

Received: August 26, 2019

Revised: September 19, 2019

Accepted: October 07, 2019

Published: December 05, 2019

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.

Keywords: Muscular dystrophies, consanguinity, developmental disabilities

Pubmed Style

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. JBC Genetics. 2019; 05 (December 2019): 143-146. doi:10.24911/JBCGenetics/183-1566823566

Web Style

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. https://www.jbcgenetics.com/articles/2185 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1566823566

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak. Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. JBC Genetics. (2019), [cited April 27, 2025]; 05 (December 2019): 143-146. doi:10.24911/JBCGenetics/183-1566823566

Harvard Style

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak (2019) Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. JBC Genetics, 05 (December 2019): 143-146. doi:10.24911/JBCGenetics/183-1566823566

Chicago Style

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak. "Congenital muscular dystrophy a case study with a mutation in the POMT1 gene." 05 (2019), 143-146. doi:10.24911/JBCGenetics/183-1566823566

MLA (The Modern Language Association) Style

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak. "Congenital muscular dystrophy a case study with a mutation in the POMT1 gene." 05.December 2019 (2019), 143-146. Print. doi:10.24911/JBCGenetics/183-1566823566

APA (American Psychological Association) Style

Muhsin Elmas, Basak Gogus, Dilek Cavusoglu, Ayhan Pektas, Mustafa Solak (2019) Congenital muscular dystrophy a case study with a mutation in the POMT1 gene. , 05 (December 2019), 143-146. doi:10.24911/JBCGenetics/183-1566823566