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Article

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

Journal of inherited metabolic disease - 1 May 2017

Reid Emma S, Williams Hywel, Anderson Glenn, Benatti Malika, Chong Kling, James Chela, Ocaka Louise, Hemingway Cheryl, Little Daniel, Brown Richard, Parker Alasdair, Holden Simon, Footitt Emma, Rahman Shamima, Gissen Paul, Mills Philippa B, Clayton Peter T

Abstract excerpt

Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatal-onset seizures and developmental delay. However, the sixth patients...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28255779
DOI: 10.1007/s10545-017-0025-7
PMCID: PMC5393281

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