Published in
Springer Nature [academic journals on nature.com], Human Genome Variation, 1(7), 2020
DOI: 10.1038/s41439-020-00117-7
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LDB2 locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder
,
Tomoe Ichikawa,
Tetsuo Ohnishi,
Yoshimi Iwayama,
Kazuya Toriumi,
Mitsuhiro Miyashita,
Izumi Nohara,
Nanako Obata,
Tomoko Toyota,
Takeo Yoshikawa,
Masanari Itokawa,
Makoto Arai
Full text: Unavailable
Abstract
AbstractWe had previously reported the case of a male patient with schizophrenia, having de-novo balanced translocation. Here, we determined the exact breakpoints in chromosomes 4 and 13. The breakpoint within chromosome 4 was mapped to a region 32.6 kbp upstream of the LDB2 gene encoding Lim domain binding 2. Variant screening in LDB2 revealed a rare novel missense variant in patients with psychiatric disorder.