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