Abstract
Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly12 promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades. In general, the cognitive profile in CS is characterized by intellectual disability ranging from mild to severe impairment. The first published descriptions of behavior in CS children underlined the presence of irritability and shyness at younger ages with sociable personality and good empathic skills after 4-5 years of age, however some recent studies have reported autistic traits. We report on a 7-year-old boy heterozygous for a rare duplication of codon 37 (p.E37dup) in HRAS, manifesting impaired social interaction and non-verbal communication and with circumscribed interests. These additional features improve phenotype delineation in individuals with rare HRAS mutations, facilitating the development of specific behavioral treatments which could lead to improvement in cases of autism spectrum disorder.
| Original language | English |
|---|---|
| Pages (from-to) | 66-71 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics - Neuropsychiatric Genetics |
| Volume | 168 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 1 2015 |
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Keywords
- Behavior
- Costello syndrome
- Genotype
- HRAS
- Pervasive developmental disorder
ASJC Scopus subject areas
- Genetics(clinical)
- Psychiatry and Mental health
- Cellular and Molecular Neuroscience
- Medicine(all)
Cite this
Behavioral phenotype in Costello syndrome with atypical mutation : A case report. / Alfieri, Paolo; Caciolo, Cristina; Piccini, Giorgia; D'Elia, Lidia; Valeri, Giovanni; Menghini, Deny; Tartaglia, Marco; Digilio, Maria Cristina; Dallapiccola, Bruno; Vicari, Stefano.
In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 168, No. 1, 01.01.2015, p. 66-71.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Behavioral phenotype in Costello syndrome with atypical mutation
T2 - A case report
AU - Alfieri, Paolo
AU - Caciolo, Cristina
AU - Piccini, Giorgia
AU - D'Elia, Lidia
AU - Valeri, Giovanni
AU - Menghini, Deny
AU - Tartaglia, Marco
AU - Digilio, Maria Cristina
AU - Dallapiccola, Bruno
AU - Vicari, Stefano
PY - 2015/1/1
Y1 - 2015/1/1
N2 - Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly12 promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades. In general, the cognitive profile in CS is characterized by intellectual disability ranging from mild to severe impairment. The first published descriptions of behavior in CS children underlined the presence of irritability and shyness at younger ages with sociable personality and good empathic skills after 4-5 years of age, however some recent studies have reported autistic traits. We report on a 7-year-old boy heterozygous for a rare duplication of codon 37 (p.E37dup) in HRAS, manifesting impaired social interaction and non-verbal communication and with circumscribed interests. These additional features improve phenotype delineation in individuals with rare HRAS mutations, facilitating the development of specific behavioral treatments which could lead to improvement in cases of autism spectrum disorder.
AB - Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly12 promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades. In general, the cognitive profile in CS is characterized by intellectual disability ranging from mild to severe impairment. The first published descriptions of behavior in CS children underlined the presence of irritability and shyness at younger ages with sociable personality and good empathic skills after 4-5 years of age, however some recent studies have reported autistic traits. We report on a 7-year-old boy heterozygous for a rare duplication of codon 37 (p.E37dup) in HRAS, manifesting impaired social interaction and non-verbal communication and with circumscribed interests. These additional features improve phenotype delineation in individuals with rare HRAS mutations, facilitating the development of specific behavioral treatments which could lead to improvement in cases of autism spectrum disorder.
KW - Behavior
KW - Costello syndrome
KW - Genotype
KW - HRAS
KW - Pervasive developmental disorder
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UR - http://www.scopus.com/inward/citedby.url?scp=84919459569&partnerID=8YFLogxK
U2 - 10.1002/ajmg.b.32279
DO - 10.1002/ajmg.b.32279
M3 - Article
C2 - 25367099
AN - SCOPUS:84919459569
VL - 168
SP - 66
EP - 71
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
SN - 1552-4841
IS - 1
ER -