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Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene
Author(s) -
Kaur Parneet,
Neethukrishna Kausthubham,
Kumble Ali,
Girisha Katta M.,
Shukla Anju
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61103
Subject(s) - itpa , microcephaly , missense mutation , corpus callosum , encephalopathy , internal capsule , hypotonia , atrophy , cerebral atrophy , white matter , epilepsy , medicine , genetics , biology , pediatrics , neuroscience , pathology , genotype , phenotype , gene , magnetic resonance imaging , radiology , ribavirin
ITPA related epileptic encephalopathy (epileptic encephalopathy, early infantile, 35) is a rare inborn error of metabolism. All reported individuals with this condition, including the present case manifest global developmental delay, seizures, progressive postnatal microcephaly, hypotonia, thin corpus callosum, cerebral atrophy, delayed myelination and white matter changes in posterior limb of internal capsule. Cataract and dilated cardiomyopathy are other characteristic findings. Currently, a single publication describes this condition in four families. Three truncating and two missense variants in ITPA have been identified in these families. We hereby report another family with ITPA related disorder and review the genotype and phenotype of the reported subjects.