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 1Mb 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.
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
authors.forename: Orazio
authors.initials: O
authors.lastname: Palumbo
authors.forename: Leonardo
authors.initials: L
authors.lastname: D'Agruma
authors.forename: Adelaide Franca
authors.initials: AF
authors.lastname: Minenna
authors.forename: Pietro
authors.initials: P
authors.lastname: Palumbo
authors.forename: Raffaella
authors.initials: R
authors.lastname: Stallone
authors.forename: Teresa
authors.initials: T
authors.lastname: Palladino
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000378:metabolism; D017353:Gene Deletion; D057895:Haploinsufficiency; D006801:Humans; D059785:Karyotype; D007805:Language Development Disorders / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009043:Motor Activity / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: C486626:FOXP1 protein, human; D051858:Forkhead Transcription Factors; D012097:Repressor Proteins