title: Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: C
authors: C
authors: Zweier
authors: H
authors: H
authors: Sticht
authors: E K
authors: EK
authors: Bijlsma
authors: J
authors: J
authors: Clayton-Smith
authors: S E
authors: SE
authors: Boonen
authors: A
authors: A
authors: Fryer
authors: M T
authors: MT
authors: Greally
authors: L
authors: L
authors: Hoffmann
authors: N S
authors: NS
authors: den Hollander
authors: M
authors: M
authors: Jongmans
authors: S G
authors: SG
authors: Kant
authors: M D
authors: MD
authors: King
authors: S A
authors: SA
authors: Lynch
authors: S
authors: S
authors: McKee
authors: A T
authors: AT
authors: Midro
authors: S-M
authors: SM
authors: Park
authors: V
authors: V
authors: Ricotti
authors: E
authors: E
authors: Tarantino
authors: M
authors: M
authors: Wessels
authors: M
authors: M
authors: Peippo
authors: A
authors: A
authors: Rauch
mesh_terms: D000293:Adolescent; D001049:Apnea / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D006985:Hyperventilation / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008831:Microcephaly; D010641:Phenotype; D013577:Syndrome; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors