Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion
| Autor: | Alessandra Pelle, Anna Cavallini, Piergiorgio Modena, Angelo Selicorni |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Microcephaly Haploinsufficiency Corpus callosum Pathology and Forensic Medicine Epilepsy Intellectual disability Humans Medicine Genetic Predisposition to Disease Genetic Association Studies Genetics (clinical) Genetics Comparative Genomic Hybridization business.industry General Medicine medicine.disease Penetrance Chromosomes Human Pair 1 Child Preschool Pediatrics Perinatology and Child Health Chromosomal region Chromosome Deletion Psychomotor Disorders Anatomy business Proto-Oncogene Proteins c-akt Comparative genomic hybridization |
| Zdroj: | Clinical Dysmorphology. 29:97-100 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0000000000000313 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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