New phenotype caused by POMGNT2 mutations
| Autor: | Carlo Vitali, Marco Cassone, Federico Zara, Chiara Fiorillo |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
Pathology
medicine.medical_specialty Neuromuscular disease Muscular Dystrophies neuro genetics Cortex (anatomy) medicine Missense mutation Humans genetics Child Preschool Gene Genetic Association Studies congenital disorders Muscle biopsy medicine.diagnostic_test business.industry Homozygote neuromuscular disease Child Preschool Female Mutation Phenotype General Medicine medicine.disease POMGNT2 gene medicine.anatomical_structure Cerebral malformations business |
| Zdroj: | BMJ case reports. 14(7) |
| ISSN: | 1757-790X |
| Popis: | We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, genetic screening of 59 genes for different cerebral malformations, follow-up and review of literature. After investigations, we identified an intermediate new phenotype between the severe and mild form, characterised by significant malformations of the cortex with myopatic symptoms, this increases the genotype–phenotype correlation knowledge about POMGNT2 gene mutations. New homozygous missense mutation on POMGNT2 (c.511 G>A, p.Asp171Asn, rs768063378) was detected. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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