Abstract
Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A150V) SLC16A2 mutation in Japanese AHDS patients from two different families. A150V co-segregated with S33P. Both patients showed similar clinical features including severe neurological features and delayed myelination. Thyroid function showed a common finding of elevated T3 levels. No clear genotype-phenotype correlation was observed in patients with SLC16A2 alterations.
Original language | English |
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Article number | 14010 |
Journal | Human Genome Variation |
Volume | 1 |
DOIs | |
Publication status | Published - 2014 |
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Genetics