Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene

Kaur, Parneet and Neethukrishna, Kausthubham and Girisha, KM and Shukla, Anju (2019) Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. American Journal of Medical Genetics- Part A, 179A. pp. 857-861. ISSN 1552-4825

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: Epileptic encephalopathy; hypomyelination; ITPA; ITPase; purine metabolism disorders.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 29 Jul 2019 06:46
Last Modified: 29 Jul 2019 06:46
URI: http://eprints.manipal.edu/id/eprint/154171

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