Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 163-170 |
| Number of pages | 8 |
| Journal | European Journal of Human Genetics |
| Volume | 18 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 2010 |
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Keywords
- 2q23.1
- Angelman
- EPC2
- MBD5
- Microdeletion
- Rett
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
The 2q23.1 microdeletion syndrome : Clinical and behavioural phenotype. / Van Bon, Bregje W M; Koolen, David A.; Brueton, Louise; McMullan, Dominic; Lichtenbelt, Klaske D.; Adès, Lesley C.; Peters, Gregory; Gibson, Kate; Novara, Francesca; Pramparo, Tiziano; Bernardina, Bernardo Dalla; Zoccante, Leonardo; Balottin, Umberto; Piazza, Fausta; Pecile, Vanna; Gasparini, Paolo; Guerci, Veronica; Kets, Marleen; Pfundt, Rolph; De Brouwer, Arjan P.; Veltman, Joris A.; De Leeuw, Nicole; Wilson, Meredith; Antony, Jayne; Reitano, Santina; Luciano, Daniela; Fichera, Marco; Romano, Corrado; Brunner, Han G.; Zuffardi, Orsetta; De Vries, Bert B A.
In: European Journal of Human Genetics, Vol. 18, No. 2, 02.2010, p. 163-170.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The 2q23.1 microdeletion syndrome
T2 - Clinical and behavioural phenotype
AU - Van Bon, Bregje W M
AU - Koolen, David A.
AU - Brueton, Louise
AU - McMullan, Dominic
AU - Lichtenbelt, Klaske D.
AU - Adès, Lesley C.
AU - Peters, Gregory
AU - Gibson, Kate
AU - Novara, Francesca
AU - Pramparo, Tiziano
AU - Bernardina, Bernardo Dalla
AU - Zoccante, Leonardo
AU - Balottin, Umberto
AU - Piazza, Fausta
AU - Pecile, Vanna
AU - Gasparini, Paolo
AU - Guerci, Veronica
AU - Kets, Marleen
AU - Pfundt, Rolph
AU - De Brouwer, Arjan P.
AU - Veltman, Joris A.
AU - De Leeuw, Nicole
AU - Wilson, Meredith
AU - Antony, Jayne
AU - Reitano, Santina
AU - Luciano, Daniela
AU - Fichera, Marco
AU - Romano, Corrado
AU - Brunner, Han G.
AU - Zuffardi, Orsetta
AU - De Vries, Bert B A
PY - 2010/2
Y1 - 2010/2
N2 - 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.
AB - 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.
KW - 2q23.1
KW - Angelman
KW - EPC2
KW - MBD5
KW - Microdeletion
KW - Rett
UR - http://www.scopus.com/inward/record.url?scp=74449084036&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=74449084036&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2009.152
DO - 10.1038/ejhg.2009.152
M3 - Article
C2 - 19809484
AN - SCOPUS:74449084036
VL - 18
SP - 163
EP - 170
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 2
ER -