A family with brachydactyly mental retardation syndrome with a missense variant in <i>HDAC4</i>-Reference-Cited by-同舟云学术

A family with brachydactyly mental retardation syndrome with a missense variant in <i>HDAC4</i>

Published:2023 Issue:2 Volume:32 Page:105-109
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Takeyari Shinji¹,Yamamoto Kenichi¹,Fujiwara Makoto¹,Ohata Yasuhisa¹,Kitaoka Taichi¹,Kubota Takuo¹,Nagata Miho²,Ishihara Yasuki²,Miyashita Yohei³,Asano Yoshihiro²,Ozono Keiichi¹

Affiliation:

1. Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan

2. Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan

3. Department of Legal Medicine, Osaka University Graduate School of Medicine, Osaka, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/32/2/32_2022-0076/_pdf

Reference25 articles.

1. 1. Wilson, LC, Leverton, K, Oude Luttikhuis, ME, Oley, CA, Flint, J, Wolstenholme, J, et al. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 1995;56: 400–7.

2. 2. Le, TN, Williams, SR, Alaimo, JT, Elsea, SH. Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. Am J Med Genet A 2019;179: 782–91.

3. 3. Wheeler, PG, Huang, D, Dai, Z. Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. Am J Med Genet A 2014;164A: 1826–9.

4. 4. Villavicencio-Lorini, P, Klopocki, E, Trimborn, M, Koll, R, Mundlos, S, Horn, D. Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. Eur J Hum Genet 2013;21: 743–8.

5. 5. Williams, SR, Aldred, MA, Der Kaloustian, VM, Halal, F, Gowans, G, McLeod, DR, et al. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet 2010;87: 219–28.