Clinical and genetic characterization of individuals with predicted deleterious PHIP variants
| Autor: | Ashley Wilson, Jane Juusola, Keri Ramsey, Antonio Vitobello, Wendy K. Chung, Marie-Noelle Bonnet Dupeyron, Kirsten E. Craddock, Volkan Okur, Jennifer Heeley, Laurence Faivre, Erica H. Gerkes |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Genetics
0303 health sciences Mutation IDENTIFICATION business.industry media_common.quotation_subject Nonsense General Medicine medicine.disease medicine.disease_cause Hypotonia Frameshift mutation 03 medical and health sciences 0302 clinical medicine Intellectual disability Missense mutation Medicine Attention deficit hyperactivity disorder Autism medicine.symptom business 030217 neurology & neurosurgery 030304 developmental biology media_common |
| Zdroj: | Cold spring harbor molecular case studies, 5(4):004200. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT |
| ISSN: | 2373-2873 |
| DOI: | 10.1101/mcs.a004200 |
| Popis: | Heterozygous deleterious variants in PHIP have been associated with behavioral problems, intellectual disability/developmental delay, obesity/overweight, and dysmorphic features (BIDOD syndrome). We report an additional 10 individuals with pleckstrin homology domain-interacting protein (PHIP)-predicted deleterious variants (four frameshift, three missense, two nonsense, and one splice site; six of which are confirmed de novo). The mutation spectrum is diverse, and there is no clustering of mutations across the protein. The clinical phenotype of these individuals is consistent with previous reports and includes behavioral problems, intellectual disability, developmental delay, hypotonia, and dysmorphic features. The additional individuals we report have a lower frequency of obesity than previous reports and a higher frequency of gastrointestinal problems, social deficits, and behavioral challenges. Characterizing additional individuals with diverse mutations longitudinally will provide better natural history data to assist with medical management and educational and behavioral support. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|