Discovery of a new c. ۴۳۸۱dup variant in a boy individual presenting with the POMGNT ۴-associated muscular dystrophy - dystroglycanopathy

Muscular dystrophy -dystroglycanopathy refers to a group of autosomal recessive neurodegenerative disorders resulting from homozygous or compound heterozygous mutations in the gene encoding POMGNT ۴ O-mannose β-۴,۱-N-acetylglucosaminyltransferase. The clinical presentation of this form of muscular dystrophy typically includes early -onset muscle weakness, gait ataxia, microcephaly, and growth delay. A case study was conducted on an ۳-year-old Iranian male displaying symptoms such as microcephaly, seizures, hydrocephalus, cerebellar abnormalities, glaucoma, growth delay, and lissencephaly. The parents of the affected child were found to be heterozygous for the POMGNT ۴ gene. Within the scope of this investigation, a novel duplication (dup ۴۳۸۱ c) was identified in exon ۱۴ of the POMGNT ۴ gene.