A homozygous mutation in POMT2 gene in four siblings with limb girdle muscular dystrophy 2N

YILDIRIM M., Koçak Eker H., DOĞAN M. T.

Türk Pediatri Arşivi, cilt.56, ss.68-71, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 56
  • Basım Tarihi: 2021
  • Doi Numarası: 10.14744/turkpediatriars.2020.37880
  • Dergi Adı: Türk Pediatri Arşivi
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.68-71
  • Anahtar Kelimeler: Dystrophy, dystroglycanopathy, limb-girdle muscular scoliosis, LGMD2N, protein O-mannosyltransferase 2
  • Ankara Üniversitesi Adresli: Evet

Özet

Mutations in protein O-mannosyltransferase 2 can cause a wide spectrum of clinical phenotypes from severe congenital muscular dystrophy such as Walker-Warburg syndrome to milder limb-girdle muscular dystrophy 2N. We aimed to describe the clinical and paraclinical features, laboratory tests, and molecular findings of four siblings with a homozygous mutation in the protein O-mannosyltransferase 2 gene. There were two sisters and two brothers, aged 4 to 17 years, with an age of onset symptoms at 3 to 12 years. The main neurologic findings were mild intellectual disability, hypoactive deep tendon reflexes, symmetrical weakness of the proximal lower and/or upper limbs, and difficulties in walking on heels and/or toes. The scoliosis found in two siblings has not been associated with protein O-mannosyltransferase 2 gene mutations related to limb-girdle muscular dystrophy 2N in previous reports. This report expands the phenotypic spectrum of protein O-mannosyltransferase 2 gene mutation-related limb-girdle muscular dystrophy 2N.