Open AccessCongenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene
Author(s) -
Sedat Işıkay,
Akif Şirikçi
Publication year - 2018
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_36_18
Subject(s) - compound heterozygosity , muscular dystrophy , heterozygote advantage , mutation , gene , genetics , congenital muscular dystrophy , mannose , dystroglycan , extracellular matrix , glycosylation , medicine , biology , allele , laminin , biochemistry
Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular α-dystroglycan to its extracellular matrix ligands. O-mannose β-1,2-N-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of α-dystroglycan. Herein, we report a patient diagnosed with muscular dystrophy-dystroglycanopathy 3 with the determination of a compound heterozygote novel mutation on O-mannose β-1,2-N-acetylglucosaminyltransferase 1 gene, which was not reported before in literature.