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

Parneet Kaur, Kausthubham Neethukrishna, Ali Kumble, Katta M. Girisha, Anju Shukla

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)857-861
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number5
DOIs
Publication statusPublished - 01-05-2019

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Brain Diseases
Internal Capsule
Inborn Errors Metabolism
Microcephaly
Muscle Hypotonia
Corpus Callosum
Dilated Cardiomyopathy
Genes
Atrophy
Publications
Seizures
Extremities
Genotype
Phenotype
White Matter
Cataract and cardiomyopathy

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

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Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. / Kaur, Parneet; Neethukrishna, Kausthubham; Kumble, Ali; Girisha, Katta M.; Shukla, Anju.

In: American Journal of Medical Genetics, Part A, Vol. 179, No. 5, 01.05.2019, p. 857-861.

Research output: Contribution to journalArticle

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