Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
Bottom Line: We identify two new point mutations (c.643C>T, c.1863delC), one new intragenic rearrangement (deletion of exons 2-8), and a new intron retention (between exons 21 and 22) resulting from a known point mutation c.1895+1G>T.POMGNT1 protein analysis in 3 patients showed that the severity of the phenotype does not correlate with protein expression.Cerebral MRI is important for identifying MEB and α-dystroglycanopathy phenotypes in children and foetuses, and hence for directing the genetic analysis.
Affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Foundation Neurological Institute C. Besta, Milano, Italy.Show MeSH
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Mentions: All 3 cases had severe psychomotor delay; generalized epileptic seizures eventually controlled with antiepileptic drugs also developed in all. CK levels were moderately elevated. Cerebral magnetic resonance imaging (MRI) showed cerebellar cysts or cerebellar hypoplasia and widespread abnormalities in the cerebral cortex, in all 3 cases (Fig. 1). Muscle biopsy revealed increased mainly perimysial connective tissue, fibre diameter variability, and a few degenerating fibres, in all cases.
Affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Foundation Neurological Institute C. Besta, Milano, Italy.