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A homozygous mutation in SLC1A4 in sibli...

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

ABSTRACT We performed exome analysis in two affected siblings with severe intellectual disability (ID), microcephaly and spasticity from an Ashkenazi Jewish consanguineous family. We identified only one rare variant, a missense in SLC1A4 (c. 766G>A [p. E256K]), that is homozygous in both siblingsbut not in any of their 11 unaffected siblings or theirparents (Logarithm of […]

SLC1A4 mutations cause a novel disorder ...

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Two unrelated patients, presenting with significant global developmental delay, severe progressive microcephaly, seizures, spasticity and thin corpuscallosum (CC) underwent trio whole-exome sequencing. No candidatevariant was found in any known genes related to the phenotype. However, crossing the data of the patients illustrated that they both manifestedpathogenic variants in the SLC1A4 gene which codes the ASCT1 […]

Mutations in SLC1A4, encoding the brain ...

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

ABSTRACT Background: L-serine plays an essential role in neuronal development and function. Although a nonessential amino acid, L-serine must be synthesised within the brain because of its poor permeability by the blood– brain barrier. Within the brain, its synthesis is confined to astrocytes, and its shuttle to neuronal cells is performed by a dedicated neutral […]

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