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- Title
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.
- Authors
Wakabayashi, Kei; Osaka, Hitoshi; Kojima, Karin; Imaizumi, Taichi; Yamamoto, Toshiyuki; Yamagata, Takanori
- Abstract
MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head control and spoke no meaningful words, indicating severe developmental delay. Although missense or in-frame mutations of SLC16A2 are usually related to milder phenotypes and later-onset pyramidal signs, loss-of-function mutations are expected to cause severe clinical symptoms.
- Subjects
GENETIC disorders; MISSENSE mutation; PHENOTYPES; CLINICAL trials; SYMPTOMS
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00142-0