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- Title
A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.
- Authors
Shinji Takeyari; Kenichi Yamamoto; Makoto Fujiwara; Yasuhisa Ohata; Taichi Kitaoka; Takuo Kubota; Miho Nagata; Yasuki Ishihara; Yohei Miyashita; Yoshihiro Asano; Keiichi Ozono
- Abstract
Brachydactyly mental retardation syndrome (BDMR) or chromosome 2q37 deletion syndrome is a genetic disorder caused by 2q37 deletion or haploinsufficiency of histone deacetylase 4 (HDAC4). The HDAC4 gene is responsible for major BDMR phenotypes. The symptoms of BDMR include mild-to-moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Here, we report a family (n = 5) with BDMR who had a missense variant of HDAC4. Four affected individuals [5-yr-old girl (index case); 15- and 3-yr-old siblings; and father] had mild intellectual disability, three of the four affected individuals had short stature and mild cardiac anomalies, and two of the four affected individuals had hypothyroidism. Wholeexome sequencing and analyses of the index case and her family revealed an allelic variant in the HDAC4 gene (NM_001378414.1:c.2204G>A:p. Arg735Gln). A healthy family member (mother) did not have the missense variant. To our knowledge, this is the first report of a missense variation in HDAC4 that is associated with BDMR.
- Subjects
MISSENSE mutation; INTELLECTUAL disabilities; DISABILITIES; GENETIC disorders; SHORT stature; AUTISM spectrum disorders
- Publication
Clinical Pediatric Endocrinology, 2023, Vol 32, Issue 2, p105
- ISSN
0918-5739
- Publication type
Article
- DOI
10.1297/cpe.2022-0076