3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination

Orazio Palumbo, Leonardo D'Agruma, Adelaide Franca Minenna, Pietro Palumbo, Raffaella Stallone, Teresa Palladino, Leopoldo Zelante, Massimo Carella

Research output: Contribution to journalArticle

22 Citations (Scopus)

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 languageEnglish
Pages (from-to)107-113
Number of pages7
JournalGene
Volume516
Issue number1
DOIs
Publication statusPublished - Mar 1 2013

Fingerprint

Language Development Disorders
Autistic Disorder
Chromosome Deletion
Genes
Single Nucleotide Polymorphism
Haploinsufficiency
Language
Parents
Genome
Phenotype

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 journalArticle

Palumbo, Orazio ; D'Agruma, Leonardo ; Minenna, Adelaide Franca ; Palumbo, Pietro ; Stallone, Raffaella ; Palladino, Teresa ; Zelante, Leopoldo ; Carella, Massimo. / 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination. In: Gene. 2013 ; Vol. 516, No. 1. pp. 107-113.
@article{18a53494d2404adaa5e31931e150b19e,
title = "3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination",
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.",
keywords = "3p14.1, FOXP1 deletion, SNP-arrays",
author = "Orazio Palumbo and Leonardo D'Agruma and Minenna, {Adelaide Franca} and Pietro Palumbo and Raffaella Stallone and Teresa Palladino and Leopoldo Zelante and Massimo Carella",
year = "2013",
month = "3",
day = "1",
doi = "10.1016/j.gene.2012.12.073",
language = "English",
volume = "516",
pages = "107--113",
journal = "Gene",
issn = "0378-1119",
publisher = "Elsevier B.V.",
number = "1",

}

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 -