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[Genome-wide copy number microarray analysis for a boy with autism].

Xuelian He1, Peiwei Zhao, Yufeng Huang

  • 1Precision Medical Laboratory, Tongji Medical College, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Huazhong University of Science and Technology, Wuhan, Hubei 430016, China. twenty119@qq.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|February 1, 2019
PubMed
Summary

A boy with autism was found to have a 7.1 Mb terminal deletion on chromosome 18q. The ZNF407 gene within this deletion is a likely cause of his autistic phenotype.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component.
  • Identifying specific genetic variants associated with ASD is crucial for understanding its etiology and developing targeted interventions.

Observation:

  • Genome-wide copy number variations (CNVs) analysis was performed using single nucleotide polymorphism (SNP) array on a male patient diagnosed with autism.
  • The analysis revealed a terminal deletion on chromosome 18q22.3q23, spanning 7.1 Mb.

Findings:

  • The identified deletion encompassed several genes, including FBXO15, ZNF407, ZADH2, TSHZ1, MBP, and ADNP2.
  • No pathogenic CNVs were detected in the patient's parents, suggesting a de novo event.
  • Literature review indicated that the ZNF407 gene is a probable contributor to the autistic phenotype observed in this patient.

Implications:

  • The 18q deletion, particularly involving the ZNF407 gene, is a strong candidate for the cause of the patient's autism.
  • SNP array technology proves valuable for investigating the molecular mechanisms underlying autism spectrum disorder.