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New phenotype caused by POMGNT2 mutations
  1. Marco Cassone1,
  2. Chiara Fiorillo2,
  3. Federico Zara3,4 and
  4. Carlo Vitali1
  1. 1Pediatrics and Neonatology Department, Ospedale Maggiore di Modica, Nino Baglieri, ASP Ragusa, Ragusa, Sicilia, Italy
  2. 2Pediatric Neurology and Muscular Disease Unit, DINOGMI, University of Genova, Genova, Italy
  3. 3Unit of Medical Genetics, IRCCS G.Gaslini, Genova, Italy
  4. 4Department of Neurology, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
  1. Correspondence to Dr Marco Cassone; marcocassone{at}yahoo.it

Abstract

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.

  • neuro genetics
  • neuromuscular disease
  • genetics
  • congenital disorders

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Footnotes

  • Contributors MC wrote the article following the patient over time, he associated the mutation with the new phenotype. CF corrected the article, and described the investigations performed, FZ performed the molecular analysis and wrote the part relating to the genetic analysis, CV correct the article.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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