Abstract
Abstract We report a family with two siblings having features of infantile neuroaxonal dystrophy (INAD), with first degree consanguineous parents. Rapid progressive loss of developing milestones (started from 18 months) and early infantile death of both siblings occurred. Brain magnetic resonance imaging (MRI) revealed severe rapidly progressive cerebellar atrophy initially reported as early as 18 months, with the younger brother suffered generalized tonic clonic seizures. Next generation sequencing revealed a new mutation in PLA2G6 gene (c.319 del C, p. Leu107 Cyst), resulting in a premature stop codon with shift in the reading frame of resulting protein. Conclusion Early onset loss of developmental milestones with cerebellar atrophy and other described clinical findings ultimately warrant PLA2G6 gene sequencing. Here we report c.319 del. C of PLA2G6 detected by next generation sequencing to be responsible for severe early infantile neuroaxonal dystrophy with early infantile death. We conclude that various PLA2G6 gene sites sequencing need further investigation in INAD in line with clinical correlation. Also INAD seems to be an unrecognized disorder that needs more categorization for proper diagnosis and genetic counselling.
Published Version
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