Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function
| Autor: | Caroline McCool, Lorraine Potocki, Lenora M. Noroski, Adiaha Spinks-Franklin |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male Craniofacial abnormality Potocki–Shaffer syndrome Chromosome Disorders Haploinsufficiency 030105 genetics & heredity Histone Deacetylases 03 medical and health sciences Cognition Intellectual disability Genetics medicine Humans Genetics (clinical) Chromosomal Deletion Genetic Association Studies Comparative Genomic Hybridization Multiple exostosis business.industry Chromosomes Human Pair 11 Chromosome Mapping medicine.disease Chromosome Banding Radiography Phenotype Child Preschool Anxiety medicine.symptom Chromosome Deletion business Exostoses Multiple Hereditary Gene Deletion Clinical psychology |
| Zdroj: | American journal of medical genetics. Part A. 173(3) |
| ISSN: | 1552-4833 |
| Popis: | Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (ALX4, EXT2, and PHF21A) in causing some of the cardinal features of PSS. We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay. Cognitive and behavioral testing supported formal diagnoses of anxiety, verbal dyspraxia, articulation disorder, and coordination disorder, without intellectual disability. His facial features, though distinctive, were not typical of those observed in PSS. As the chromosomal deletion does not encompass PHF21A, this case lends further support that haploinsufficiency of PHF21A contributes to the intellectual disability and craniofacial abnormalities in PSS and that there are other genes in the region which likely contribute to the behavioral phenotype in this syndrome. © 2017 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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