Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3

Yasutsugu Chinen; Sadao Nakamura; Akira Ganaha; Shin Hayashi; Johji Inazawa; Kumiko Yanagi; Koichi Nakanishi; Tadashi Kaname; Kenji Naritomi

doi:10.1002/ccr3.1361

Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3

Clin Case Rep. 2017 Dec 28;6(2):330-336. doi: 10.1002/ccr3.1361. eCollection 2018 Feb.

Authors

Yasutsugu Chinen¹, Sadao Nakamura¹, Akira Ganaha², Shin Hayashi^{3

4}, Johji Inazawa^{3

4}, Kumiko Yanagi⁵, Koichi Nakanishi¹, Tadashi Kaname⁵, Kenji Naritomi⁶

Affiliations

¹ Department of Pediatrics Faculty of Medicine University of the Ryukyus Nishihara Japan.
² Department of Otorhinolaryngology, Head and Neck Surgery Faculty of Medicine University of the Ryukyus Nishihara Japan.
³ Department of Molecular Cytogenetics Medical Research Institute Tokyo Medical and Dental University Tokyo Japan.
⁴ Hard Tissue Genome Research Center Tokyo Medical and Dental University Tokyo Japan.
⁵ Department of Genome Medicine National Center for Child Health and Development Tokyo Japan.
⁶ Okinawa Nanbu Habilitation and Medical Center Naha Japan.

Abstract

A Japanese boy aged 7 years with Bainbridge-Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant "p.P1010Lfs*14" in ASXL3 gene in addition to typical findings of BRPS.

Keywords: ASXL3; Bainbridge‐Ropers syndrome; Sylvian fissure.

Publication types

Case Reports