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Review
. 2020 Jul;8(7):e1289.
doi: 10.1002/mgg3.1289. Epub 2020 May 16.

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Emanuela Ponzi  1 , Mattia Gentile  1 , Emanuele Agolini  2 , Emilia Matera  3 , Roberto Palumbi  3 , Antonia Lucia Buonadonna  1 , Antonia Peschechera  3 , Alessandra Gabellone  3 , Maria Fatima Antonucci  1 , Lucia Margari  3
Affiliations
Review

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Emanuela Ponzi et al. Mol Genet Genomic Med. 2020 Jul.

Abstract

Background: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2-1(*600635), and PAX9(*167416) and a distal region (RO2), including NKX2-1 and PAX9. We report a 6-year-old boy with mild dysmorphic facial features, global developmental delay, and hypoplasia of the corpus callosum.

Methods and results: Array-CGH analysis revealed a 14q12q13.2 microdeletion. We compared the phenotype of our patient with previously published cases in order to establish a genotype-phenotype correlation.

Conclusion: The study hypothesizes the presence of a new RO, not including the previously reported candidate genes, and attempt to define the associated molecular and psychomotor/neurobehavioral phenotype. This region encompasses the distal breakpoint of RO1 and the proximal breakpoint of RO2, and seems to be associated with intellectual disability (ID), hypotonia, epilepsy, and corpus callosum abnormalities. Although more cases are needed, we speculated on SNX6(*606098) and BAZ1A(*605680) as potential candidate genes associated with the corpus callosum abnormalities.

Keywords: BAZ1A; SNX6; 14q13 microdeletion syndrome; CNS anomalies.

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Conflict of interest statement

The authors declared that they have no conflict of interest.

Figures

FIGURE 1
FIGURE 1
A‒C, Clinical photographs of index case at 6 years of age. Frontal view showing regional abdominal fat distribution (BMI > 99 centile), short neck, and facial features (A); Characteristic hands with stubby fingers (B); Brain magnetic resonance imaging (MRI) sagittal T2 image showing corpus callosum hypoplasia (C). D, Overview of the 14q12q13 deleted region and cytoband track in our case compared with the other patients reported in literature: delineation of the third Region of Overlap (RO3); GeneBank reference sequence for OMIM gene involved in the deleted region for which this data is known: NPAS3(NG_013036.2), CFL2(NG_012740.1), PSMA6(NG_011703.2), NFKBIA(NG_007571.1), RALGAPA1(NG_051667.1)
See this image and copyright information in PMC

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