Turkish Archives of Pediatrics
Case Report

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

1.

Department of Pediatric Neurology, Konya Training and Research Hospital, Konya, Turkey

2.

Department of Medical Genetics, Konya Training and Research Hospital, Konya, Turkey

3.

Department of Pediatric Cardiology, Konya Training and Research Hospital, Konya, Turkey

Turk Arch Pediatr 2021; 56: 68-71
DOI: 10.14744/TurkPediatriArs.2020.37880
Read: 45 Downloads: 17 Published: 30 December 2020

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.

Cite this article as: Yıldırım M, Koçak Eker H, Doğan MT. A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N. Turk Arch Pediatr 2021; 56(1): 68-71.

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