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Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Authors :
Alina T. Midro
Marjolijn C.J. Jongmans
Emilia K. Bijlsma
L Hoffmann
N S den Hollander
Alan Fryer
Mary D. King
Anita Rauch
Susanne E Boonen
Jill Clayton-Smith
Christiane Zweier
Shane McKee
Maarit Peippo
Sarina G. Kant
M T Greally
Sally Ann Lynch
Valeria Ricotti
E Tarantino
Marja W. Wessels
Heinrich Sticht
S-M Park
Surgery
Obstetrics & Gynecology
Clinical Genetics
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.

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