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Identification of a Novel Missense C.386G > a Variant in a Boy With the Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Publisher Pubmed



Mohammadi P1 ; Daneshmand MA2 ; Mahdieh N3 ; Ashrafi MR4 ; Heidari M4 ; Garshasbi M1
Authors
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Authors Affiliations
  1. 1. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
  2. 2. Dr. Daneshmand Pathology Lab, Arak, Iran
  3. 3. Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  4. 4. Pediatrics Center of Excellence, Department of Pediatric Neurology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Acta Neurologica Belgica Published:2021


Abstract

Muscular dystrophy-dystroglycanopathies are autosomal recessive neurologic disorders, caused by homozygous or compound heterozygous mutations in the POMGNT1 gene-encoding protein O-mannose beta-1,2-N-acetylglucosaminyl transferase. This type of muscular dystrophy is characterized by early-onset muscle weakness, gait ataxia, microcephaly, and developmental delay.We performed whole-exome sequencing to detect the disease-causing variants in a 4 year-old boy. Afterwards, Sanger sequencing was performed to confirm the detected variant in the patient and his family. We evaluated a 4 year-old Iranian boy presented with delayed speech and language development, gait ataxia, global developmental delay, motor delay, neurodevelopmental delay, postnatal microcephaly and strabismus. His parents were first cousins, and the mother had a history of spontaneous abortion. In this study, we report a novel missense c.386G > A; p.(Arg129Gln) variant in the POMGNT1 gene which was confirmed by Sanger sequencing in the patient and segregated with the disease in the family. © 2020, Belgian Neurological Society.
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