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Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
- Source :
- Journal of Medical Genetics, 45(11), 738-744. BMJ Publishing Group, Journal of Medical Genetics, 45, 11, pp. 738-44, Journal of Medical Genetics, 45, 738-44
- Publication Year :
- 2008
-
Abstract
- Item does not contain fulltext BACKGROUND: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation. METHODS: TCF4 mutational analysis was performed in 117 patients with PTHS-like features. RESULTS: In total, 16 novel mutations were identified. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt. In addition, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures and 44% had MRI anomalies. CONCLUSION: This study provides further evidence of the mutational and clinical spectrum of PTHS and confirms its important role in the differential diagnosis of severe mental retardation.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
Microcephaly
Adolescent
Genotype
Apnea
DNA Mutational Analysis
Pitt–Hopkins syndrome
Young Adult
Transcription Factor 4
Intellectual Disability
Genetics
medicine
Humans
Hyperventilation
Child
Genetics (clinical)
business.industry
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Infant
TCF4
Syndrome
medicine.disease
Phenotype
DNA-Binding Proteins
Genetic defects of metabolism [UMCN 5.1]
Child, Preschool
Face
Female
Differential diagnosis
Haploinsufficiency
business
Functional Neurogenomics [DCN 2]
Transcription Factors
Subjects
Details
- ISSN :
- 00222593
- Database :
- OpenAIRE
- Journal :
- Journal of Medical Genetics, 45(11), 738-744. BMJ Publishing Group, Journal of Medical Genetics, 45, 11, pp. 738-44, Journal of Medical Genetics, 45, 738-44
- Accession number :
- edsair.doi.dedup.....c4149896a8bd1b9b0383d48fed735a9d