TY - JOUR
T1 - Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome
AU - Hori, Ikumi
AU - Miya, Fuyuki
AU - Ohashi, Kei
AU - Negishi, Yutaka
AU - Hattori, Ayako
AU - Ando, Naoki
AU - Okamoto, Nobuhiko
AU - Kato, Mitsuhiro
AU - Tsunoda, Tatsuhiko
AU - Yamasaki, Mami
AU - Kanemura, Yonehiro
AU - Kosaki, Kenjiro
AU - Saitoh, Shinji
N1 - Funding Information:
This study was supported in part by a grant for Research on Applying Health Technology from the Ministry of Health, Labour and Welfare of Japan to F. M., N.O., M.K., M.Y., K.Y., K.K., and S.S. We thank Mr. K.A. Boroevich for English proofreading.
Publisher Copyright:
© 2016 Wiley Periodicals, Inc.
PY - 2016/7/1
Y1 - 2016/7/1
N2 - 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.
AB - 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.
KW - ASXL3
KW - Bainbridge–Ropers syndrome
KW - whole-exome sequencing
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U2 - 10.1002/ajmg.a.37653
DO - 10.1002/ajmg.a.37653
M3 - Article
C2 - 27075689
AN - SCOPUS:84963826932
SN - 1552-4825
VL - 170
SP - 1863
EP - 1867
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -