Abstract
Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands. Patients with NIPBL mutations have more severe phenotypes when compared to those with mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in patients with Cornelia de Lange syndrome. Here, we describe a 3-year-old girl with psychomotor and cognitive impairment, mild facial dysmorphic features but no limb anomaly, heterozygous for a c.1487G>A mutation in SMC1A which predicts p.Arg496His. We show that this mutation leads to an impairment of the cellular response to genotoxic treatments.
| Original language | English |
|---|---|
| Pages (from-to) | 224-228 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 158 A |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2012 |
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Keywords
- Cellular response to genotoxic treatments
- Cornelia de Lange syndrome
- Recurring mutation
- SMC1A codon 496
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. / Mannini, Linda; Menga, Stefania; Tonelli, Alessandra; Zanotti, Silvia; Bassi, Maria Teresa; Magnani, Cinzia; Musio, Antonio.
In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 1, 01.2012, p. 224-228.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - SMC1A codon 496 mutations affect the cellular response to genotoxic treatments
AU - Mannini, Linda
AU - Menga, Stefania
AU - Tonelli, Alessandra
AU - Zanotti, Silvia
AU - Bassi, Maria Teresa
AU - Magnani, Cinzia
AU - Musio, Antonio
PY - 2012/1
Y1 - 2012/1
N2 - Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands. Patients with NIPBL mutations have more severe phenotypes when compared to those with mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in patients with Cornelia de Lange syndrome. Here, we describe a 3-year-old girl with psychomotor and cognitive impairment, mild facial dysmorphic features but no limb anomaly, heterozygous for a c.1487G>A mutation in SMC1A which predicts p.Arg496His. We show that this mutation leads to an impairment of the cellular response to genotoxic treatments.
AB - Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands. Patients with NIPBL mutations have more severe phenotypes when compared to those with mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in patients with Cornelia de Lange syndrome. Here, we describe a 3-year-old girl with psychomotor and cognitive impairment, mild facial dysmorphic features but no limb anomaly, heterozygous for a c.1487G>A mutation in SMC1A which predicts p.Arg496His. We show that this mutation leads to an impairment of the cellular response to genotoxic treatments.
KW - Cellular response to genotoxic treatments
KW - Cornelia de Lange syndrome
KW - Recurring mutation
KW - SMC1A codon 496
UR - http://www.scopus.com/inward/record.url?scp=84355166398&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84355166398&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.34384
DO - 10.1002/ajmg.a.34384
M3 - Article
VL - 158 A
SP - 224
EP - 228
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -