Ann Rehabil Med.  2015 Jun;39(3):482-487. 10.5535/arm.2015.39.3.482.

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

• KMID: 2165653
• DOI: http://doi.org/10.5535/arm.2015.39.3.482

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.

Keyword

Chromosomal aberrations; Developmental disabilities; 5q14.3 deletion

MeSH Terms

Brain
Child
Chromosome Aberrations
Comparative Genomic Hybridization
Developmental Disabilities
Female
Genes, vif
Genetic Testing
Humans
Intellectual Disability
Korea
Multiplex Polymerase Chain Reaction
Seizures, Febrile
Walking

Figure

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  Fig. 1 Plain X-ray films of the patient showed mild thoracic scoliosis with Cobb's angle of 12.5° (A), left pelvic tilting, bilateral coxa valga with the angle between the axis of femur neck and shaft of 149° and 143°, respectively (B), and bilateral pes planus of talometatarsal angle of 16.1° (C) and 14.0° (D). The patient was unable to stand still with her ankles in a neutral position while taking the plain X-rays.

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  Fig. 2 Brain magnetic resonance imaging (MRI) of the patient showed delayed myelination at both 10 months (A) and 19 months (B), showing a prominent T2 high signal in the parietal deep white matter. A follow-up MRI at 48 months (C) had no focal abnormality. Diffusion tensor tractography showed normal microstructure (D).

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  Fig. 3 Chromosome analysis of the proband (A) and multiplex ligation-dependent probe amplification analysis using a subtelomeric probe set (P070) (B) showed a normal female karyotype for our patient. However, the oligonucleotide array comparative genomic hybridization profile (C) showed a 1.33-Mb sized deletion in the 5q14.3 region.

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  Fig. 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.

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