A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
| Autor: | Yıldırım M; Department of Pediatric Neurology, Konya Training and Research Hospital, Konya, Turkey., Koçak Eker H; Department of Medical Genetics, Konya Training and Research Hospital, Konya, Turkey., Doğan MT; Department of Pediatric Cardiology, Konya Training and Research Hospital, Konya, Turkey. |
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| Jazyk: | angličtina |
| Zdroj: | Turkish archives of pediatrics [Turk Arch Pediatr] 2021 Jan 01; Vol. 56 (1), pp. 68-71. Date of Electronic Publication: 2021 Jan 01 (Print Publication: 2021). |
| DOI: | 10.14744/TurkPediatriArs.2020.37880 |
| Abstrakt: | 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. Competing Interests: Conflict of Interest: The authors have no conflicts of interest to declare. (Copyright © 2021 Turkish Pediatric Association.) |
| Databáze: | MEDLINE |
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