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Updated: Feb 15, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly

Desaraju Suresh Bhargav1, N Sreedevi2, N Swapna3

  • 1Unit for Human Genetics, All India Institute of Speech and Hearing, Manasagangothri, India.

F1000Research
|January 30, 2018
PubMed

Insights

Researchers identified a new genetic cause for true microcephaly using advanced sequencing. This discovery aids in genetic counseling to prevent future occurrences of this rare neurological disorder.

Area of Science:

  • Genetics
  • Neuropathology
  • Molecular Biology

Background:

  • Microcephaly is a complex genetic disorder often seen in pediatric neuropathology.
  • Multiple genes are linked to true microcephaly, with ongoing discoveries due to sequencing advancements.

Purpose of the Study:

  • To identify the genetic cause of true autosomal recessive primary microcephaly in a patient.
  • To leverage exome sequencing for accurate diagnosis and family genetic counseling.

Main Methods:

  • Massive parallel sequencing was employed to analyze the patient's genetic material.
  • Exome sequencing was specifically used to pinpoint the causative genetic mutation.

Main Results:

  • A novel frame shift insertion was identified in the abnormal spindle-like microcephaly-associated protein gene (ASPM).
  • This mutation was confirmed as the cause of true autosomal recessive primary microcephaly in the studied individual.

Conclusions:

  • Exome sequencing is effective in diagnosing the genetic basis of microcephaly.
  • Identifying the specific gene mutation allows for informed genetic counseling to prevent recurrence within families.
Keywords:
ASPMExome SequencingMCPHMCPH5Microcephaly

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