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3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.

de la Hoz AB, Maortua H, García-Rives A, Martínez-González MJ, Ezquerra M, Tejada MI - Case Rep Genet (2015)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Plataforma de Genética Genómica, Instituto de Investigación Sanitaria BioCruces (IIS BioCruces), Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain ; GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

The array comparative genomic hybridization (CGH) profile of chromosome 3 showing an interstitial deletion. (a) View of chromosome 3 and (b) the enlarged view of the rearrangement as generated by CytoGenomics v.2.7 (Agilent Technologies). The deletion breakpoint was between 60.461.316 and 68.515.453 (3p14.2-p14.1). The size of the deletion was ~8 Mb.
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fig2: The array comparative genomic hybridization (CGH) profile of chromosome 3 showing an interstitial deletion. (a) View of chromosome 3 and (b) the enlarged view of the rearrangement as generated by CytoGenomics v.2.7 (Agilent Technologies). The deletion breakpoint was between 60.461.316 and 68.515.453 (3p14.2-p14.1). The size of the deletion was ~8 Mb.

Mentions: The karyotype was normal, as was the MECP2 gene. However, array CGH analysis revealed an 8 Mb proximal deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453 (Figure 2) (GRCh37/hg19). Among the genes mapped to this region, six are known or believed to have a role in neurodevelopment: FEZF2 (OMIM# 607414), CADPS (OMIM# 604667), SYNPR (no OMIM entry), TXN7 (OMM# 607640), PRICKLE2 (OMIM# 608501), and MAGI1 (OMIM# 602625). The deletion was confirmed to be de novo, on the basis of a comparative study with the parental DNA by qRT-PCR (Table 1).


3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.

de la Hoz AB, Maortua H, García-Rives A, Martínez-González MJ, Ezquerra M, Tejada MI - Case Rep Genet (2015)

The array comparative genomic hybridization (CGH) profile of chromosome 3 showing an interstitial deletion. (a) View of chromosome 3 and (b) the enlarged view of the rearrangement as generated by CytoGenomics v.2.7 (Agilent Technologies). The deletion breakpoint was between 60.461.316 and 68.515.453 (3p14.2-p14.1). The size of the deletion was ~8 Mb.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4446465&req=5

fig2: The array comparative genomic hybridization (CGH) profile of chromosome 3 showing an interstitial deletion. (a) View of chromosome 3 and (b) the enlarged view of the rearrangement as generated by CytoGenomics v.2.7 (Agilent Technologies). The deletion breakpoint was between 60.461.316 and 68.515.453 (3p14.2-p14.1). The size of the deletion was ~8 Mb.
Mentions: The karyotype was normal, as was the MECP2 gene. However, array CGH analysis revealed an 8 Mb proximal deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453 (Figure 2) (GRCh37/hg19). Among the genes mapped to this region, six are known or believed to have a role in neurodevelopment: FEZF2 (OMIM# 607414), CADPS (OMIM# 604667), SYNPR (no OMIM entry), TXN7 (OMM# 607640), PRICKLE2 (OMIM# 608501), and MAGI1 (OMIM# 602625). The deletion was confirmed to be de novo, on the basis of a comparative study with the parental DNA by qRT-PCR (Table 1).

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Plataforma de Genética Genómica, Instituto de Investigación Sanitaria BioCruces (IIS BioCruces), Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain ; GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), 28029 Madrid, Spain.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus