A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder

被引:2
作者
Vrkic Boban, Ivona [1 ]
Sekiguchi, Futoshi [2 ]
Lozic, Mirela [3 ]
Miyake, Noriko [2 ]
Matsumoto, Naomichi [2 ]
Lozic, Bernarda [1 ,3 ]
机构
[1] Univ Hosp Split, Dept Pediat, Spinciceva 1, Split 21000, Croatia
[2] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Japan
[3] Univ Split, Sch Med, Split, Croatia
关键词
balanced chromosomal abnormalities; whole genome sequencing; SETBP1; CHROMOSOMES; LEUKEMIA;
D O I
10.1055/s-0040-1715639
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Balanced chromosomal abnormalities (BCAs) can disrupt gene function resulting in disease. To date, BCA disrupting theSET binding protein 1(SETBP1) gene has not been reported. On the other hand, de novo heterozygous variants in the highly conserved 11-bp region inSETBP1can result in the Schinzel-Giedion syndrome. This condition is characterized by severe intellectual disability, a characteristic face, and multiple-system anomalies. Further other types of mutations involvingSETBP1are associated with a different phenotype, mental retardation, autosomal dominant 29 (MRD29), which has mild dysmorphic features, developmental delay, and behavioral disorders. Here we report a male patient who has moderate intellectual disability, mild behavioral difficulties, and severe expressive speech impairment resulting from a de novo balanced chromosome translocation, t(12;18)(q22;q12.3). By whole genome sequencing, we determined the breakpoints at the nucleotide level. The 18q12.3 breakpoint was located between exons 2 and 3 ofSETBP1. Phenotypic features of our patient are compatible with those with MRD29. This is the first reported BCA disruptingSETBP1.
引用
收藏
页码:135 / 138
页数:4
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