The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

被引：63

作者：

van Bon, Bregje W. M. ^{[1
]}

Koolen, David A. ^{[1
,2
]}

Brueton, Louise ^{[2
]}

McMullan, Dominic

Lichtenbelt, Klaske D. ^{[3
]}

Ades, Lesley C. ^{[4
]}

Peters, Gregory ^{[4
]}

Gibson, Kate ^{[5
]}

Novara, Francesca ^{[6
]}

Pramparo, Tiziano ^{[6
]}

Dalla Bernardina, Bernardo ^{[7
]}

Zoccante, Leonardo ^{[7
]}

Balottin, Umberto ^{[7
]}

Piazza, Fausta ^{[7
]}

Pecile, Vanna ^{[8
]}

Gasparini, Paolo ^{[9
]}

Guerci, Veronica ^{[9
]}

Kets, Marleen ^{[1
]}

Pfundt, Rolph ^{[1
]}

de Brouwer, Arjan P. ^{[1
]}

Veltman, Joris A. ^{[1
]}

de Leeuw, Nicole ^{[1
]}

Wilson, Meredith ^{[10
]}

Antony, Jayne ^{[10
]}

Reitano, Santina

Luciano, Daniela ^{[11
]}

Fichera, Marco ^{[11
]}

Romano, Corrado

Brunner, Han G. ^{[1
]}

Zuffardi, Orsetta ^{[6
,12
]}

de Vries, Bert B. A. ^{[1
]}

机构：

[1] RUNMC, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[2] Univ Birmingham, Div Med & Mol Genet, Birmingham, W Midlands, England

[3] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[4] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia

[5] Royal Brisbane & Womens Hosp, Brisbane, Qld, Australia

[6] Univ Pavia, I-27100 Pavia, Italy

[7] Univ Verona, Child Neuropsychiat Unit, Policlin GB Rossi, I-37100 Verona, Italy

[8] IRCCS Burlo Garafano, Cytogenet Lab, Trieste, Italy

[9] Univ Trieste, IRCCS Burlo Garofolo, Trieste, Italy

[10] Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

[11] IRCCS Assoc Oasi Maria Santissima, Lab Genet Diag, Troina, Italy

[12] IRCCS Fdn C Mondino, Pavia, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2010年 / 18卷 / 02期

关键词：

2q23.1; Angelman; EPC2; MBD5; microdeletion; Rett; DELETIONS; REARRANGEMENTS; MUTATIONS; COMPLEX; DOMAIN;

D O I：

10.1038/ejhg.2009.152

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only. EPC2 is a member of the polycomb protein family, involved in heterochromatin formation and might be involved in causing MR. Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems. European Journal of Human Genetics (2010) 18, 163-170; doi:10.1038/ejhg.2009.152; published online 7 October 2009

引用

页码：163 / 170

页数：8

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