Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation

Gencpinar P., Uyanik G., Haspolat S., Oygur N., Duman O.

NEUROPHYSIOLOGY, cilt.51, sa.5, ss.373-378, 2019 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Editöre Mektup
  • Cilt numarası: 51 Sayı: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1007/s11062-020-09831-y
  • Dergi Adı: NEUROPHYSIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.373-378
  • Anahtar Kelimeler: ISPD gene, mutations, CNS involvement, hydrocephaly, congenital muscular dystrophies, WARBURG, DELETION
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Congenital muscular alpha-dystroglycanopaties (MDDGAs) are rare congenital muscular dystrophies that are accompanied by a variety of brain and eye malformations. More than 19 gene mutations have been identified in MDDGA, and 11 mutations have been identified in the Walker-Warburg syndrome, but these changes could only be confirmed in about 60-70% of the clinically diagnosed individuals. In recent studies, a novel recessive mutation has been described in the ISPD gene. This mutation abolishes the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation. We present clinical and molecular data of a male newborn having severe hydrocephaly, hypotonia, microphthalmia, microcornea, bilateral cataract, and a high creatine kinase level; this case had a homozygous mutation in the ISPD gene in exon-3. We also provide a literature review with respect to patients with ISPD mutations and involvement of the CNS.