Abstract
Interstitial deletion of chromosome region 3p14.1, including FOXP1 gene, is relatively rare and, until recently, there were no strong evidences to support the hypothesis that this microdeletion could play a role in the etiology of genomic disorders. Here, we report on an adult patient with a recognizable phenotype of autism, severe speech delay, deficit of motor coordination and typical dysmorphic features. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a 1. Mb interstitial deletion of chromosome region 3p14.1 including the entire coding region of FOXP1 (MIM 605515) gene. In order to study the parental origin of the deletion, we analyzed selected SNPs in the deleted area in the proband and his parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Despite the frequency of this genomic alteration has not been estimated, our patient confirm the hypothesis that microdeletion of 3p14.1 seems to be a rare cause of cognitive disorders and that haploinsufficiency of FOXP1 may play a role in neurological and language deficits in patients carrying a 3p14.1 deletion. Finally, our patient is also important because useful to further delineate the clinical spectrum secondary to the 3p14.1 microdeletions.
| Original language | English |
|---|---|
| Pages (from-to) | 107-113 |
| Number of pages | 7 |
| Journal | Gene |
| Volume | 516 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Mar 1 2013 |
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Keywords
- 3p14.1
- FOXP1 deletion
- SNP-arrays
ASJC Scopus subject areas
- Genetics
Cite this
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination. / Palumbo, Orazio; D'Agruma, Leonardo; Minenna, Adelaide Franca; Palumbo, Pietro; Stallone, Raffaella; Palladino, Teresa; Zelante, Leopoldo; Carella, Massimo.
In: Gene, Vol. 516, No. 1, 01.03.2013, p. 107-113.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination
AU - Palumbo, Orazio
AU - D'Agruma, Leonardo
AU - Minenna, Adelaide Franca
AU - Palumbo, Pietro
AU - Stallone, Raffaella
AU - Palladino, Teresa
AU - Zelante, Leopoldo
AU - Carella, Massimo
PY - 2013/3/1
Y1 - 2013/3/1
N2 - Interstitial deletion of chromosome region 3p14.1, including FOXP1 gene, is relatively rare and, until recently, there were no strong evidences to support the hypothesis that this microdeletion could play a role in the etiology of genomic disorders. Here, we report on an adult patient with a recognizable phenotype of autism, severe speech delay, deficit of motor coordination and typical dysmorphic features. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a 1. Mb interstitial deletion of chromosome region 3p14.1 including the entire coding region of FOXP1 (MIM 605515) gene. In order to study the parental origin of the deletion, we analyzed selected SNPs in the deleted area in the proband and his parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Despite the frequency of this genomic alteration has not been estimated, our patient confirm the hypothesis that microdeletion of 3p14.1 seems to be a rare cause of cognitive disorders and that haploinsufficiency of FOXP1 may play a role in neurological and language deficits in patients carrying a 3p14.1 deletion. Finally, our patient is also important because useful to further delineate the clinical spectrum secondary to the 3p14.1 microdeletions.
AB - Interstitial deletion of chromosome region 3p14.1, including FOXP1 gene, is relatively rare and, until recently, there were no strong evidences to support the hypothesis that this microdeletion could play a role in the etiology of genomic disorders. Here, we report on an adult patient with a recognizable phenotype of autism, severe speech delay, deficit of motor coordination and typical dysmorphic features. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a 1. Mb interstitial deletion of chromosome region 3p14.1 including the entire coding region of FOXP1 (MIM 605515) gene. In order to study the parental origin of the deletion, we analyzed selected SNPs in the deleted area in the proband and his parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Despite the frequency of this genomic alteration has not been estimated, our patient confirm the hypothesis that microdeletion of 3p14.1 seems to be a rare cause of cognitive disorders and that haploinsufficiency of FOXP1 may play a role in neurological and language deficits in patients carrying a 3p14.1 deletion. Finally, our patient is also important because useful to further delineate the clinical spectrum secondary to the 3p14.1 microdeletions.
KW - 3p14.1
KW - FOXP1 deletion
KW - SNP-arrays
UR - http://www.scopus.com/inward/record.url?scp=84873099158&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84873099158&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2012.12.073
DO - 10.1016/j.gene.2012.12.073
M3 - Article
C2 - 23287644
AN - SCOPUS:84873099158
VL - 516
SP - 107
EP - 113
JO - Gene
JF - Gene
SN - 0378-1119
IS - 1
ER -