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MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report.

Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH - Ann Rehabil Med (2015)

Bottom Line: MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome.We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports.The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

ABSTRACT
Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

No MeSH data available.


Related in: MedlinePlus

Schematic representation of the deletions in chromosome 5q14.3 from all the previous reports (black bars) and our patient in this study (red bar). Black arrows represent the direction and the length of genes in this region. Modified from Shimojima et al. [6] with permission of John Wiley & Sons.
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Figure 4: Schematic representation of the deletions in chromosome 5q14.3 from all the previous reports (black bars) and our patient in this study (red bar). Black arrows represent the direction and the length of genes in this region. Modified from Shimojima et al. [6] with permission of John Wiley & Sons.

Mentions: There have been 23 patients with 5q14.3 deletions previously reported worldwide at present [6]. The clinical variability of these patients may be partly influenced by differences in the deletion's size [7]. However, despite having similar deletions in size, the severity of brain anomalies varies considerably from case to case. For example, Novara et al. [8] reported a patient (Fig. 4, P2 of Novara et al.) who had only a small deletion of 318 kbp, but showed severe perinatal hemorrhage and subsequent leukoencephalopathy.


MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report.

Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH - Ann Rehabil Med (2015)

Schematic representation of the deletions in chromosome 5q14.3 from all the previous reports (black bars) and our patient in this study (red bar). Black arrows represent the direction and the length of genes in this region. Modified from Shimojima et al. [6] with permission of John Wiley & Sons.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4496521&req=5

Figure 4: Schematic representation of the deletions in chromosome 5q14.3 from all the previous reports (black bars) and our patient in this study (red bar). Black arrows represent the direction and the length of genes in this region. Modified from Shimojima et al. [6] with permission of John Wiley & Sons.
Mentions: There have been 23 patients with 5q14.3 deletions previously reported worldwide at present [6]. The clinical variability of these patients may be partly influenced by differences in the deletion's size [7]. However, despite having similar deletions in size, the severity of brain anomalies varies considerably from case to case. For example, Novara et al. [8] reported a patient (Fig. 4, P2 of Novara et al.) who had only a small deletion of 318 kbp, but showed severe perinatal hemorrhage and subsequent leukoencephalopathy.

Bottom Line: MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome.We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports.The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

ABSTRACT
Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

No MeSH data available.


Related in: MedlinePlus