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. 2018 Jul;9(4):175-181.
doi: 10.1159/000489842. Epub 2018 May 30.

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

Giulia Parmeggiani  1 , Barbara Buldrini  1 , Sergio Fini  1 , Alessandra Ferlini  1 , Stefania Bigoni  1
Affiliations

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

Giulia Parmeggiani et al. Mol Syndromol. 2018 Jul.

Abstract

Interstitial deletions of chromosome 3p are rare, and specific genotype-phenotype correlations cannot always be assessed. We report the case of a 3p14.2 proximal microdeletion in a 60-year-old female patient with mild intellectual disability, severe speech delay, and mild dysmorphism. An array-CGH analysis detected a 500-kb deletion in the 3p14.2 region, including FEZF2, CADPS, and PTPRG. FEZF2 and CADPS are known to network within the neurodevelopmental pathways. It is possible that their rearrangements lead to the phenotypic features observed in the patient, and therefore, they can be considered candidate genes responsible for such abnormalities.

Keywords: 3p14.2; Candidate genes; Intellectual disability; Microdeletion.

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Figures

Fig. 1
Fig. 1
Family pedigree. The patient is indicated by a black circle.
Fig. 2
Fig. 2
a, b Facial appearance of the patient.
Fig. 3
Fig. 3
FISH with the specific probe RP11-32J15 which maps within the chromosome 3 deletion. The signal is absent in 1 of the 2 chromosomes (arrow).
Fig. 4
Fig. 4
The array-CGH profile of chromosome 3 showing the deletion. In the upper part, chromosome 3, generated by CytoChip, is shown. The red bar shows the patient's deletion. The breakpoint of the 3p14.2 deletion is from position 62,145,855 to 62,648,232 bp. The size of the deletion is ∼500 kb. In the lower part of the figure, the 3p14.2 deleted region and genes included as generated by the UCSC Genome Browser are shown. The PTPRG, FEZF2, and CADP genes, partially or completely deleted, are indicated by red circles.
Fig. 5
Fig. 5
Interactome network (STRING database). The red circles represent the gene network involved in the development of the nervous system. FEZF2 interacts indirectly with PTPRG through SEMA5A and CNTN4, while PTPRG and FEZF2 indirectly act very loosely with CADPS.
Fig. 6
Fig. 6
Schematic representation of the 3p14.2 deletion identified in our patient and in previously described patients in the literature and in the DECIPHER database. The dotted lines contain the region in which the candidate genes are located and the overlapping deleted regions of the other cases.
See this image and copyright information in PMC

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