Ontology highlight
ABSTRACT:
SUBMITTER: Horiuchi Y
PROVIDER: S-EPMC7524746 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Horiuchi Yasue Y Ichikawa Tomoe T Ohnishi Tetsuo T Iwayama Yoshimi Y Toriumi Kazuya K Miyashita Mitsuhiro M Nohara Izumi I Obata Nanako N Toyota Tomoko T Yoshikawa Takeo T Itokawa Masanari M Arai Makoto M
Human genome variation 20200929
We 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 <i>LDB2</i> revealed a rare novel missense variant in patients with psychiatric disorder. ...[more]