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Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child
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Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child
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Journal Article
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child
2017
Overview
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the
SLC5A6
gene and mediates biotin, pantothenic acid, and lipoate uptake in a variety of cellular systems. We report here the identification of mutations R94X, a premature termination, and R123L, a dysfunctional amino acid change, both in exon 3 of the
SLC5A6
gene in a child using whole genome-scanning. At 15 months of age, the child showed failure to thrive, microcephaly and brain changes on MRI, cerebral palsy and developmental delay, variable immunodeficiency, and severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, and pathologic bone fractures. After identification of the
SLC5A6
mutations, he responded clinically to supplemental administration of excess biotin, pantothenic acid, and lipoate with improvement in clinical findings. Functionality of the two mutants was examined by
3
H-biotin uptake assay following expression of the mutants in human-derived intestinal HuTu-80 and brain U87 cells. The results showed severe impairment in biotin uptake in cells expressing the mutants compared to those expressing wild-type hSMVT. Live cell confocal imaging of cells expressing the mutants showed the R94X mutant to be poorly tolerated and localized in the cytoplasm, while the R123L mutant was predominantly retained in the endoplasmic reticulum. This is the first reporting of mutations in the
SLC5A6
gene in man, and suggests that this gene is important for brain development and a wide variety of clinical functions.
Publisher
Springer Berlin Heidelberg,Springer,Springer Nature B.V
Subject
/ Biomedical and Life Sciences
/ Biotin
/ Biotin - administration & dosage
/ Bone Diseases - drug therapy
/ brain
/ Brain Diseases - drug therapy
/ children
/ Exons
/ Humans
/ Infant
/ Intestinal Diseases - diagnosis
/ Intestinal Diseases - drug therapy
/ Intestinal Diseases - genetics
/ Male
/ mutants
/ Mutation
/ Ostomy
/ Pantothenic Acid - administration & dosage
/ Pantothenic Acid - pharmacokinetics
/ Proteins
/ Thioctic Acid - administration & dosage
/ Thioctic Acid - pharmacokinetics
/ Vitamins
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