Abstract
The 4q deletion syndrome phenotype consists of growth failure and developmental delay, minor craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified an inversion (inv(1)(q25.2q31.1)) and an interstitial deletion in a boy with developmental delay using array-comparative genomic hybridization. This de novo deletion is located at 4q31.21q31.22 (145,963,820- 147,044,764), its size is 0.9-1.1 Mb, and it contains 7 genes (ABCE1, OTUD4, SMAD1, MMAA, C4orf51, ZNF827, and ANAPC10) as well as 5 retrotransposon-derived pseudogenes. Bioinformatic analysis revealed that while small copy number variations seem to have no impact on the phenotype, larger deletions or duplications in the deleted region are associated with developmental delay. Additionally, we found a higher coverage in transposable element sequences in the 4q31.21q31.22 region compared to that of the expected repeat density when regarding any random genome region. Transposable elements might have contributed to the reshaping of the genome architecture and, most importantly, we identified 3 L1PA family members in the breakpoint regions, suggesting their possible contribution in the mechanism underlying the appearance of this deletion. In conclusion, this is one of the smallest deletions reported associated with developmental delay, and we discuss the possible role of genomic features having an impact on the phenotype.
| Original language | English |
|---|---|
| Pages (from-to) | 227-238 |
| Number of pages | 12 |
| Journal | Cytogenetic and Genome Research |
| Volume | 142 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2014 |
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Keywords
- 4q deletion syndrome
- aCGH
- Developmental delay
- Dysmorphism
- Transposable elements
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
- Molecular Biology
Cite this
An Interstitial 4q31.21q31.22 microdeletion associated with developmental delay : Case report and literature review. / Vlaikou, Angeliki Maria; Manolakos, Emmanouil; Noutsopoulos, Dimitrios; Markopoulos, Georgios; Liehr, Thomas; Vetro, Annalisa; Ziegler, Monika; Weise, Anja; Kreskowski, Katharina; Papoulidis, Ioannis; Thomaidis, Loretta; Syrrou, Maria.
In: Cytogenetic and Genome Research, Vol. 142, No. 4, 2014, p. 227-238.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - An Interstitial 4q31.21q31.22 microdeletion associated with developmental delay
T2 - Case report and literature review
AU - Vlaikou, Angeliki Maria
AU - Manolakos, Emmanouil
AU - Noutsopoulos, Dimitrios
AU - Markopoulos, Georgios
AU - Liehr, Thomas
AU - Vetro, Annalisa
AU - Ziegler, Monika
AU - Weise, Anja
AU - Kreskowski, Katharina
AU - Papoulidis, Ioannis
AU - Thomaidis, Loretta
AU - Syrrou, Maria
PY - 2014
Y1 - 2014
N2 - The 4q deletion syndrome phenotype consists of growth failure and developmental delay, minor craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified an inversion (inv(1)(q25.2q31.1)) and an interstitial deletion in a boy with developmental delay using array-comparative genomic hybridization. This de novo deletion is located at 4q31.21q31.22 (145,963,820- 147,044,764), its size is 0.9-1.1 Mb, and it contains 7 genes (ABCE1, OTUD4, SMAD1, MMAA, C4orf51, ZNF827, and ANAPC10) as well as 5 retrotransposon-derived pseudogenes. Bioinformatic analysis revealed that while small copy number variations seem to have no impact on the phenotype, larger deletions or duplications in the deleted region are associated with developmental delay. Additionally, we found a higher coverage in transposable element sequences in the 4q31.21q31.22 region compared to that of the expected repeat density when regarding any random genome region. Transposable elements might have contributed to the reshaping of the genome architecture and, most importantly, we identified 3 L1PA family members in the breakpoint regions, suggesting their possible contribution in the mechanism underlying the appearance of this deletion. In conclusion, this is one of the smallest deletions reported associated with developmental delay, and we discuss the possible role of genomic features having an impact on the phenotype.
AB - The 4q deletion syndrome phenotype consists of growth failure and developmental delay, minor craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified an inversion (inv(1)(q25.2q31.1)) and an interstitial deletion in a boy with developmental delay using array-comparative genomic hybridization. This de novo deletion is located at 4q31.21q31.22 (145,963,820- 147,044,764), its size is 0.9-1.1 Mb, and it contains 7 genes (ABCE1, OTUD4, SMAD1, MMAA, C4orf51, ZNF827, and ANAPC10) as well as 5 retrotransposon-derived pseudogenes. Bioinformatic analysis revealed that while small copy number variations seem to have no impact on the phenotype, larger deletions or duplications in the deleted region are associated with developmental delay. Additionally, we found a higher coverage in transposable element sequences in the 4q31.21q31.22 region compared to that of the expected repeat density when regarding any random genome region. Transposable elements might have contributed to the reshaping of the genome architecture and, most importantly, we identified 3 L1PA family members in the breakpoint regions, suggesting their possible contribution in the mechanism underlying the appearance of this deletion. In conclusion, this is one of the smallest deletions reported associated with developmental delay, and we discuss the possible role of genomic features having an impact on the phenotype.
KW - 4q deletion syndrome
KW - aCGH
KW - Developmental delay
KW - Dysmorphism
KW - Transposable elements
UR - http://www.scopus.com/inward/record.url?scp=84902292245&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84902292245&partnerID=8YFLogxK
U2 - 10.1159/000361001
DO - 10.1159/000361001
M3 - Article
C2 - 24733116
AN - SCOPUS:84902292245
VL - 142
SP - 227
EP - 238
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 4
ER -