Abstract
Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote deletion removing five exons (exons 17-21), encoding the histone acetyltransferase domain. We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features.
| Original language | English |
|---|---|
| Pages (from-to) | 2809-2815 |
| Number of pages | 7 |
| Journal | Genetics and Molecular Research |
| Volume | 12 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Jan 7 2013 |
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Keywords
- Comparative multiplex dosage analysis
- CREB-binding protein
- Multiplex ligation-dependent probe amplification
- Rubinstein-Taybi syndrome
ASJC Scopus subject areas
- Genetics
- Molecular Biology
Cite this
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome. / Calì, F.; Failla, P.; Chiavetta, V.; Ragalmuto, A.; Ruggeri, G.; Schinocca, P.; Schepis, C.; Romano, V.; Romano, C.
In: Genetics and Molecular Research, Vol. 12, No. 3, 07.01.2013, p. 2809-2815.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome
AU - Calì, F.
AU - Failla, P.
AU - Chiavetta, V.
AU - Ragalmuto, A.
AU - Ruggeri, G.
AU - Schinocca, P.
AU - Schepis, C.
AU - Romano, V.
AU - Romano, C.
PY - 2013/1/7
Y1 - 2013/1/7
N2 - Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote deletion removing five exons (exons 17-21), encoding the histone acetyltransferase domain. We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features.
AB - Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote deletion removing five exons (exons 17-21), encoding the histone acetyltransferase domain. We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features.
KW - Comparative multiplex dosage analysis
KW - CREB-binding protein
KW - Multiplex ligation-dependent probe amplification
KW - Rubinstein-Taybi syndrome
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U2 - 10.4238/2013.January.7.2
DO - 10.4238/2013.January.7.2
M3 - Article
C2 - 23315884
AN - SCOPUS:84881292715
VL - 12
SP - 2809
EP - 2815
JO - Genetics and Molecular Research
JF - Genetics and Molecular Research
SN - 1676-5680
IS - 3
ER -