Open AccessA new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD
Author(s) -
Ola H. Gebril,
Steffen Uebe,
Miriam S. Reuter,
Johannes Schumacher,
Rami Abou Jamra,
André Reis
Publication year - 2016
Publication title -
egyptian pediatric association gazette /egyptian pediatric association gazette
Language(s) - English
Resource type - Journals
eISSN - 2090-9942
pISSN - 1110-6638
DOI - 10.1016/j.epag.2016.11.001
Subject(s) - missense mutation , atrophy , medicine , failure to thrive , pathology , genetics , mutation , pediatrics , gene , biology
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 18months) and early infantile death of both siblings occurred. Brain magnetic resonance imaging (MRI) revealed severe rapidly progressive cerebellar atrophy initially reported as early as 18months, 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.ConclusionEarly 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