Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion

Alessandra Pelle, Piergiorgio Modena, Anna Cavallini, Angelo Selicorni

Research output: Contribution to journalArticlepeer-review

Abstract

Deletion of the 1q43q44 chromosomal region has been related to a clinical syndrome characterized by neurodevelopmental delay, intellectual disability, microcephaly, congenital abnormality of the corpus callosum, and epilepsy and dysmorphic features. A wide variability of the clinical features have been linked to the contiguous deleted genes and incomplete penetrance has been observed too. Here, we report a 4-years-old boy with microcephaly, neurodevelopmental delay, and cardiac atrial septal defect, who had a de-novo 117 Kb 1q43-q44 microdeletion. The deleted chromosomal region encompassed the two genes SDCCAG8 and AKT3. The characteristics of the deletion and the clinical condition of the patient suggest a pathogenic role of the 1q43-q44 deletion, supporting a pivotal role of AKT3 gene in the expression of the clinical phenotype.

Original languageEnglish
Pages (from-to)97-100
Number of pages4
JournalClinical Dysmorphology
Volume29
Issue number2
DOIs
Publication statusPublished - 2020

Keywords

  • 1q43q44 deletion
  • AKT3
  • Array comparative genomic hybridization
  • Microcephaly

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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