Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalNot applicablepeer-review

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Author(s)

  • Zhifan Zhou
  • Zhengmao Hu
  • Lu Zhang
  • Zhaoting Hu
  • Haihong Liu
  • And 7 others
  • Zhening Liu
  • Juan Du
  • Jingping Zhao
  • Lin Zhou
  • Kun Xia
  • Bengsha Tang
  • Lu Shen

Related Research Unit(s)

Detail(s)

Original languageEnglish
Article number24327
Journal / PublicationScientific Reports
Volume6
Publication statusPublished - 13 Apr 2016

Link(s)

Abstract

Schizophrenia (SCZ) is a serious psychiatric disease with strong heritability. Its complexity is reflected by extensive genetic heterogeneity and much of the genetic liability remains unaccounted for. We applied a combined strategy involving detection of copy number variants (CNVs), whole-genome mapping, and exome sequencing to identify the genetic basis of autosomal-dominant SCZ in a Chinese family. To rule out pathogenic CNVs, we first performed Illumina single nucleotide polymorphism (SNP) array analysis on samples from two patients and one psychiatrically healthy family member, but no pathogenic CNVs were detected. In order to further narrow down the susceptible region, we conducted genome-wide linkage analysis and mapped the disease locus to chromosome 7q21.13-22.3, with a maximum multipoint logarithm of odds score of 2.144. Whole-exome sequencing was then carried out with samples from three affected individuals and one unaffected individual in the family. A missense variation c.9575 C > G (p.Thr3192Ser) was identified in RELN, which is known as a risk gene for SCZ, located on chromosome 7q22, in the pedigree. This rare variant, as a highly penetrant risk variant, co-segregated with the phenotype. Our results provide genetic evidence that RELN may be one of pathogenic gene in SCZ.

Research Area(s)

  • GENOME-WIDE ASSOCIATION, BIPOLAR DISORDER, REELIN GENE, SCHIZOAFFECTIVE DISORDER, LIPOPROTEIN RECEPTOR, SYNAPTIC PLASTICITY, CORTICAL-NEURONS, MUTATIONS, NMDA, EXPRESSION

Citation Format(s)

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia. / Zhou, Zhifan; Hu, Zhengmao; Zhang, Lu; Hu, Zhaoting; Liu, Haihong; Liu, Zhening; Du, Juan; Zhao, Jingping; Zhou, Lin; Xia, Kun; Tang, Bengsha; Shen, Lu.

In: Scientific Reports, Vol. 6, 24327, 13.04.2016.

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalNot applicablepeer-review

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