10-year-old female with intragenic KANSL1 mutation, no KANSL1 -related intellectual disability, and preserved verbal intelligence
| Autor: | Holly Dubbs, Carole A. Samango-Sprouse, Elaine H. Zackai, Colleen Keen |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Koolen De Vries syndrome Intelligence Neuropsychological Tests 03 medical and health sciences Intellectual Disability Intellectual disability Genetics medicine Humans Abnormalities Multiple Child Frameshift Mutation Hearing Loss Alleles Genetic Association Studies Genetics (clinical) Verbal Behavior business.industry Genetic disorder Nuclear Proteins Microdeletion syndrome medicine.disease Verbal reasoning 17q21.31 microdeletion syndrome Phenotype 030104 developmental biology Mutation Female Speech disorder Chromosome Deletion medicine.symptom business Haploinsufficiency Chromosomes Human Pair 17 |
| Zdroj: | American Journal of Medical Genetics Part A. 173:762-765 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.38080 |
| Popis: | Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. © 2017 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text