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[Identification of a novel TBR1 gene variant in a Chinese pedigree affected with intellectual developmental disorder

Xu Cao1, Jing Li, Hui Song

  • 1Prenatal Diagnosis Center of WanBei Coal and Electricity Group General Hospital, Suzhou, Anhui 234000, China. caoxu-2009@qq.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|October 9, 2021
PubMed

Insights

A novel splice variant in the TBR1 gene causes intellectual developmental disorder with autism and speech delay (IDDAS). Prenatal diagnosis successfully prevented transmission of this genetic condition.

Area of Science:

  • Genetics
  • Neurodevelopmental disorders
  • Molecular biology

Background:

  • Intellectual developmental disorder with autism and speech delay (IDDAS) is a complex condition.
  • The TBR1 gene plays a crucial role in brain development.

Purpose of the Study:

  • To identify the genetic cause of IDDAS in a family.
  • To investigate a novel splice variant in the TBR1 gene.

Main Methods:

  • Whole exome sequencing was used to identify genetic variants.
  • Minigene assays were performed to assess variant function.
  • Prenatal diagnosis was conducted via amniotic fluid sampling.

Main Results:

  • A novel splicing variant (c.1129-1G>C) in the TBR1 gene was identified in the affected family.
  • This variant led to abnormal splicing of exon 5.
  • The variant was not detected in the fetus, and the child was born healthy.

Conclusions:

  • The TBR1 c.1129-1G>C variant is likely the cause of IDDAS in this family.
  • Prenatal genetic diagnosis and counseling are vital for preventing the transmission of such pathogenic variants.
Abstract

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