Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

Laura Libernini; Chiara Lupis; Mario Mastrangelo; Rosalba Carrozzo; Filippo Maria Santorelli; Maurizio Inghilleri; Vincenzo Leuzzi

doi:10.1055/s-0032-1315431

Neuropediatrics, Table of Contents

Neuropediatrics 2012; 43(04): 201-208
DOI: 10.1055/s-0032-1315431

Short Communication

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

Laura Libernini

¹Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy

,

Chiara Lupis

¹Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy

,

Mario Mastrangelo

¹Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy

,

Rosalba Carrozzo

²Division of Molecular Medicine, Bambino Gesù Children Hospital, Rome, Italy

,

Filippo Maria Santorelli

³Department of Molecular Medicine for Neurodegenerative Disease, Stella Maris Foundation, Pisa, Italy

,

Maurizio Inghilleri

⁴Department of Neurology, La Sapienza-University of Rome, Rome, Italy

,

Vincenzo Leuzzi

¹Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy

› Author Affiliations

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE, MIM 603041) is an autosomal recessive multisystem disorder occurring due to mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). Clinical features of MNGIE include gastrointestinal dysmotility, cachexia, ptosis or ophthalmoparesis, peripheral neuropathy, diffuse leukoencephalopathy, and signs of mitochondrial dysfunction in tissues. We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215–13_215delinsGCGTGA; c.1159 + 2T > A) were associated with different clinical presentations and outcomes.

Keywords

children - mitochondrial diseases - mitochondrial neurogastrointestinal encephalomyopathy - thymidine phosphorylase

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References

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