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

被引：81

作者：

Zweier, C. ^{[1
]}

Sticht, H. ^{[2
]}

Bijlsma, E. K. ^{[3
]}

Clayton-Smith, J. ^{[4
,5
]}

Boonen, S. E. ^{[6
]}

Fryer, A. ^{[7
]}

Greally, M. T. ^{[8
]}

Hoffmann, L. ^{[9
]}

den Hollander, N. S.

Jongmans, M. ^{[10
]}

Kant, S. G. ^{[3
]}

King, M. D. ^{[11
]}

Lynch, S. A.

McKee, S. ^{[12
]}

Midro, A. T. ^{[13
]}

Park, S-M ^{[14
]}

Ricotti, V. ^{[11
]}

Tarantino, E. ^{[15
]}

Wessels, M. ^{[16
]}

Peippo, M. ^{[17
]}

Rauch, A. ^{[1
]}

机构：

[1] Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany

[2] Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany

[3] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands

[4] Univ Manchester, St Marys Hosp, Acad Dept Med Genet, Manchester M13 0JH, Lancs, England

[5] Univ Manchester, St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England

[6] Visual Impairment & Mental Retardat, Res Ctr Genet, Glostrup, Denmark

[7] Royal Liverpool Childrens Hosp, Dept Clin Genet, Liverpool L7 7DG, Merseyside, England

[8] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland

[9] Naestved Hosp, Dept Pediat, Naestved, Denmark

[10] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[11] Sophia Childrens Univ Hosp, Dept Pediat Neurol, Dublin, Ireland

[12] Belfast City Hosp, No Ireland Reg Genet Ctr, Belfast BT9 7AD, Antrim, North Ireland

[13] Med Univ Bialystok, Dept Clin Genet, Bialystok, Poland

[14] Addenbrookes Hosp, Dept Clin Genet, Cambridge, England

[15] Santa Chiara Hosp, Dept Pediat, Clin Genet Sect, Pisa, Italy

[16] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[17] Dept Med Genet, Helsinki, Finland

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 11期

关键词：

D O I：

10.1136/jmg.2008.060129

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：738 / 744

页数：7

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