Novel splicing mutation in the <i>ASXL3</i> gene causing Bainbridge–Ropers syndrome

American Journal of Medical Genetics, Part A - Tập 170 Số 7 - Trang 1863-1867 - 2016
Ikumi Hori1, Fuyuki Miya2,3, Kei Ohashi1, Yutaka Negishi1, Ayako Hattori1, Nobutoshi Ando1, Nobuhiko Okamoto4, Mitsuhiro Kato5, Tatsuhiko Tsunoda2,3, Mami Yamasaki6, Yonehiro Kanemura7,8, Kenjiro Kosaki9, Shinji Saitoh1
1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
2Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
3Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
4Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
5Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan
6Department of Neurosurgery, Takatsuki General Hospital, Osaka, Japan
7Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan
8Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan
9Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan

Tóm tắt

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. © 2016 Wiley Periodicals, Inc.

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American Journal of Medical Genetics, Part A

Tập 170 Số 7

1863-1867

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