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Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.

Nicholas Raun1, Janette Mailo1, Egidio Spinelli1

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Genetic defects in 1q43-q44 deletion syndrome can cause microcephaly. Other genes besides AKT3 may contribute to microcephaly in patients with this condition.

Keywords:
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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Genome-wide techniques increasingly identify genetic defects in intellectual disability (ID).
  • Genotype-phenotype correlations are becoming more established for ID.
  • Previous studies suggested AKT3 deletion as the primary cause of microcephaly in 1q43-q44 deletion syndrome.

Observation:

  • A case of a de novo 1q44 deletion in an 8-year-old boy with microcephaly is presented, where AKT3 was not deleted.
  • A systematic literature review, patient data, and network analysis were employed.
  • Microcephaly severity was correlated with AKT3 deletion (≤3 SD) in 1q43-q44 deletion patients.

Findings:

  • While AKT3 deletion is linked to severe microcephaly in 1q43-q44 deletion syndrome, other genes may cause microcephaly in AKT3-intact patients.
  • Potential roles for HNRNPU, SMYD3, NLRP3, and KIF26B in microcephaly were identified.
  • Network analysis is crucial for understanding complex genetic syndromes.

Implications:

  • This study expands the understanding of the genetic basis of microcephaly in 1q deletion syndromes.
  • It highlights the importance of considering multiple genes beyond AKT3.
  • The findings underscore the need for network analysis and quantitative reporting in analyzing copy number variation syndromes.