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Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

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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.

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Data availability

Human variant and pertinent phenotypes have been reported to ClinVar (Accession number: SCV001251175).

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Acknowledgments

We thank all participants in this research. The authors are especially thankful to the patient and his parents who took part in this study and also the personnel of the DeNA laboratory (https://dna-lab.ir/) for supporting us in this study.

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Authors and Affiliations

  1. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

    Pouria Mohammadi & Masoud Garshasbi

  2. Dr. Daneshmand Pathology Lab, Arāk, Iran

    Mohammad Ali Daneshmand

  3. Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran

    Nejat Mahdieh

  4. Pediatrics Center of Excellence, Department of Pediatric Neurology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Mahmoud Reza Ashrafi & Morteza Heidari

Authors
  1. Pouria Mohammadi
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  2. Mohammad Ali Daneshmand
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  3. Nejat Mahdieh
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  4. Mahmoud Reza Ashrafi
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  5. Morteza Heidari
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  6. Masoud Garshasbi
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Corresponding author

Correspondence to Masoud Garshasbi.

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There is no conflict of interest for any of the authors.

Ethical standard statement

The study was approved by the local ethics committee of Tarbiat Modares University, Tehran, Iran (Ethics ID: IR.MODARES.REC.1399.080) and has therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

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Mohammadi, P., Daneshmand, M.A., Mahdieh, N. et al. Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. Acta Neurol Belg 121, 143–151 (2021). https://doi.org/10.1007/s13760-020-01527-8

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  • DOI: https://doi.org/10.1007/s13760-020-01527-8

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