3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases
To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, lear...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2015-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/876348 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832562249831546880 |
|---|---|
| author | Ana Belén de la Hoz Hiart Maortua Ainhoa García-Rives María Jesús Martínez-González Maitane Ezquerra María-Isabel Tejada |
| author_facet | Ana Belén de la Hoz Hiart Maortua Ainhoa García-Rives María Jesús Martínez-González Maitane Ezquerra María-Isabel Tejada |
| author_sort | Ana Belén de la Hoz |
| collection | DOAJ |
| description | To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes: FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases. |
| format | Article |
| id | doaj-art-25431cce4e0c438a8e9d6f920b5d92f0 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-25431cce4e0c438a8e9d6f920b5d92f02025-02-03T01:23:07ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/8763488763483p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar CasesAna Belén de la Hoz0Hiart Maortua1Ainhoa García-Rives2María Jesús Martínez-González3Maitane Ezquerra4María-Isabel Tejada5Plataforma de Genética Genómica, Instituto de Investigación Sanitaria BioCruces (IIS BioCruces), Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, SpainGCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, SpainGCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, SpainGCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, SpainPlataforma de Genética Genómica, Instituto de Investigación Sanitaria BioCruces (IIS BioCruces), Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, SpainGCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, SpainTo date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes: FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases.http://dx.doi.org/10.1155/2015/876348 |
| spellingShingle | Ana Belén de la Hoz Hiart Maortua Ainhoa García-Rives María Jesús Martínez-González Maitane Ezquerra María-Isabel Tejada 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases Case Reports in Genetics |
| title | 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases |
| title_full | 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases |
| title_fullStr | 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases |
| title_full_unstemmed | 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases |
| title_short | 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases |
| title_sort | 3p14 de novo interstitial microdeletion in a patient with intellectual disability and autistic features with language impairment a comparison with similar cases |
| url | http://dx.doi.org/10.1155/2015/876348 |
| work_keys_str_mv | AT anabelendelahoz 3p14denovointerstitialmicrodeletioninapatientwithintellectualdisabilityandautisticfeatureswithlanguageimpairmentacomparisonwithsimilarcases AT hiartmaortua 3p14denovointerstitialmicrodeletioninapatientwithintellectualdisabilityandautisticfeatureswithlanguageimpairmentacomparisonwithsimilarcases AT ainhoagarciarives 3p14denovointerstitialmicrodeletioninapatientwithintellectualdisabilityandautisticfeatureswithlanguageimpairmentacomparisonwithsimilarcases AT mariajesusmartinezgonzalez 3p14denovointerstitialmicrodeletioninapatientwithintellectualdisabilityandautisticfeatureswithlanguageimpairmentacomparisonwithsimilarcases AT maitaneezquerra 3p14denovointerstitialmicrodeletioninapatientwithintellectualdisabilityandautisticfeatureswithlanguageimpairmentacomparisonwithsimilarcases AT mariaisabeltejada 3p14denovointerstitialmicrodeletioninapatientwithintellectualdisabilityandautisticfeatureswithlanguageimpairmentacomparisonwithsimilarcases |