Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome
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- 作者：Ikumi Hori ; Fuyuki Miya ; Kei Ohashi ; Yutaka Negishi ; Ayako Hattori ; Naoki Ando ; Nobuhiko Okamoto ; Mitsuhiro Kato ; Tatsuhiko Tsunoda ; Mami Yamasaki ; Yonehiro Kanemura ; Kenjiro Kosaki and Shinji Saitoh
- 刊名：American Journal of Medical Genetics Part A
- 出版年：2016
- 出版时间：July 2016
- 年：2016
- 卷：170
- 期：7
- 页码：1863-1867
- 全文大小：1520K
- ISSN：1552-4833
文摘
Bainbridge–Ropers syndrome (BRPS) is characterized by severe developmental delay, feeding problems, short stature, characteristic facal appearance including arched eyebrows and anteverted nares, and ulnar deviation of the hands. BRPS is caused by a heterozygous mutation in the additional sex combs-like 3 (ASXL3) gene. We describe a patient with severe developmental delay, feeding problems, short stature, autism, and sleep disturbance with a heterozygous de novo splicing mutation in the ASXL3 gene. Reported disease-causing mutations in ASXL3 are located mostly in the first half of exon 11, analogous to ASXL1 mutations of which result in Bohring–Opitz syndrome (BOS). Our findings suggest that the expression of the truncated ASXL3 protein, including ASXN and ASXH domains, give rise to BRPS, which is distinct from but overlaps with BOS.