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- Title
A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.
- Authors
Chen, Xiaodan; Liu, Li; Zeng, Chunhua
- Abstract
<bold>Background: </bold>Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessive neurodegenerative disorder caused by mutations in the SLC16A2 gene that encodes thyroid hormone transporter. AHDS has been rarely reported in China.<bold>Case Presentation: </bold>This study reported a novel splicing mutation in the SLC16A2 gene in an 18-month-old male patient with AHDS. The patient was born to non-consanguineous, healthy parents of Chinese origin. He passed new-born screening for hypothyroidism, but failed to reach developmental milestones. He presented with hypotonia, severe mental retardation, dysarthria and ataxia. Genetic analysis identified a novel splicing mutation, NM_006517.4: c.431-2 A > G, in the SLC16A2 gene inherited from his mother. The patient received Triac treatment, (triiodothyroacetic acid), a thyroid hormone analogue for 3 months. Triac treatment effectively reduced serum TSH concentrations and normalized serum T3 concentrations in the patient.<bold>Conclusions: </bold>This study reported the first case of AHDS treated by Triac in China. And the study expanded the mutational spectrum of the SLC16A2 gene in AHDS patients.
- Subjects
CHINA; INTELLECTUAL disabilities; THYROID hormones; CONGENITAL hypothyroidism; SYNDROMES; NEURODEGENERATION; GENETIC mutation; MUSCULAR atrophy; PROTEINS; MUSCLE hypotonia; ION transport (Biology); DISEASE complications
- Publication
BMC Pediatrics, 2022, Vol 22, Issue 1, p1
- ISSN
1471-2431
- Publication type
journal article
- DOI
10.1186/s12887-022-03259-5