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

C. Zweier; H. Sticht; E. K. Bijlsma; J. Clayton-Smith; S. E. Boonen; A. Fryer; M. T. Greally; L. Hoffmann; N. S. den Hollander; M. Jongmans; S. G. Kant; M. D. King; S. A. Lynch; S. McKee; A. T. Midro; S. M. Park; V. Ricotti; E. Tarantino; M. Wessels; M. Peippo; A. Rauch

doi:10.1136/jmg.2008.060129

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

C. Zweier, H. Sticht, E. K. Bijlsma, J. Clayton-Smith, S. E. Boonen, A. Fryer, M. T. Greally, L. Hoffmann, N. S. den Hollander, M. Jongmans, S. G. Kant, M. D. King, S. A. Lynch, S. McKee, A. T. Midro, S. M. Park, V. Ricotti, E. Tarantino, M. Wessels, M. PeippoA. Rauch^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

57 Citations (Scopus)

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. 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.

Original language	English
Pages (from-to)	738-744
Number of pages	7
Journal	Journal of Medical Genetics
Volume	45
Issue number	11
DOIs	https://doi.org/10.1136/jmg.2008.060129
Publication status	Published - 1 Nov 2008

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Zweier, C., Sticht, H., Bijlsma, E. K., Clayton-Smith, J., Boonen, S. E., Fryer, A., Greally, M. T., Hoffmann, L., den Hollander, N. S., Jongmans, M., Kant, S. G., King, M. D., Lynch, S. A., McKee, S., Midro, A. T., Park, S. M., Ricotti, V., Tarantino, E., Wessels, M., ... Rauch, A. (2008). Further delineation of Pitt-Hopkins syndrome: Phenotypic and genotypic description of 16 novel patients. Journal of Medical Genetics, 45(11), 738-744. https://doi.org/10.1136/jmg.2008.060129

@article{0702ab4363fc4a8594803e3359ee7f8a,

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. 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.",

author = "C. Zweier and H. Sticht and Bijlsma, {E. K.} and J. Clayton-Smith and Boonen, {S. E.} and A. Fryer and Greally, {M. T.} and L. Hoffmann and {den Hollander}, {N. S.} and M. Jongmans and Kant, {S. G.} and King, {M. D.} and Lynch, {S. A.} and S. McKee and Midro, {A. T.} and Park, {S. M.} and V. Ricotti and E. Tarantino and M. Wessels and M. Peippo and A. Rauch",

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doi = "10.1136/jmg.2008.060129",

language = "English",

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Zweier, C, Sticht, H, Bijlsma, EK, Clayton-Smith, J, Boonen, SE, Fryer, A, Greally, MT, Hoffmann, L, den Hollander, NS, Jongmans, M, Kant, SG, King, MD, Lynch, SA, McKee, S, Midro, AT, Park, SM, Ricotti, V, Tarantino, E, Wessels, M, Peippo, M & Rauch, A 2008, 'Further delineation of Pitt-Hopkins syndrome: Phenotypic and genotypic description of 16 novel patients', Journal of Medical Genetics, vol. 45, no. 11, pp. 738-744. https://doi.org/10.1136/jmg.2008.060129

TY - JOUR

T1 - Further delineation of Pitt-Hopkins syndrome

T2 - Phenotypic and genotypic description of 16 novel patients

AU - Zweier, C.

AU - Sticht, H.

AU - Bijlsma, E. K.

AU - Clayton-Smith, J.

AU - Boonen, S. E.

AU - Fryer, A.

AU - Greally, M. T.

AU - Hoffmann, L.

AU - den Hollander, N. S.

AU - Jongmans, M.

AU - Kant, S. G.

AU - King, M. D.

AU - Lynch, S. A.

AU - McKee, S.

AU - Midro, A. T.

AU - Park, S. M.

AU - Ricotti, V.

AU - Tarantino, E.

AU - Wessels, M.

AU - Peippo, M.

AU - Rauch, A.

PY - 2008/11/1

Y1 - 2008/11/1

N2 - 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.

AB - 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.

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SN - 0022-2593

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SP - 738

EP - 744

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 11

ER -

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

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