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Case Reports
. 2020 Apr 16;13(1):63.
doi: 10.1186/s12920-020-0711-4.

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Živilė Maldžienė  1 , Evelina M Vaitėnienė  2 , Beata Aleksiūnienė  3 , Algirdas Utkus  3 , Eglė Preikšaitienė  3
Affiliations
Case Reports

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

Živilė Maldžienė et al. BMC Med Genomics. .

Abstract

Background: Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in marked growth restriction, severe intellectual disability, and absent or severely delayed speech. A microdeletion of 4q13.3 hasn't been previously reported. We discuss the involvement of genes and the observed phenotype, comparing it with that of previously reported patients.

Case presentation: We report on a 4q13.3 microdeletion detected in three affected individuals of a Lithuanian family. The clinical features of two affected children and their affected mother are very similar and include short stature, congenital heart defect, skeletal anomalies, minor facial anomalies, delayed puberty, and intellectual disability. Whole genome SNP microarray analysis of one child revealed an interstitial 4q13.3 microdeletion, 1.56 Mb in size. FISH analysis confirmed the deletion in the proband and identified the same deletion in her affected sib and mother, while it was not detected in a healthy sib. Deletion includes ADAMTS3, ANKRD17, COX18, GC, and NPFFR2 protein-coding genes.

Conclusions: Our findings suggest that 4q13.3 microdeletion is a cause of a recognizable phenotype of three affected individuals. The detected microdeletion is the smallest interstitial deletion in 4q13. We highlight ADAMTS3, ANKRD17 and RNU4ATAC9P as candidate genes for intellectual disability, growth retardation and congenital heart defect.

Keywords: 4q13.3 microdeletion; ADAMTS3; ANKRD17; COX18; Congenital anomalies; Intellectual disability.

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Conflict of interest statement

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Fig. 1
Fig. 1
a. The genealogy of the family. The black symbol denotes affected individuals. b. Side facial view of patient 1 at age of 14 years. c. Side facial view of patient 2 at age of 9 years. d-e. Chest X-ray of patient 2 at age of 10 years showes “S” shaped II° scoliosis of the thoracolumbar spine
Fig. 2
Fig. 2
1.56 Mb deletion, arr[hg19] 4q13.3(72,647,749_74,208,199)×1 detected by SNP oligonucleotide microarray analysis and a schematic view of the genes. Horizontal white bars below represent deletions
See this image and copyright information in PMC

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