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.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Ponzi E,Gentile M,Agolini E,Matera E,Palumbi R,Buonadonna AL,Peschechera A,Gabellone A,Antonucci MF,Margari Ldoi
10.1002/mgg3.1289subject
Has Abstractpub_date
2020-07-01 00:00:00pages
e1289issue
7issn
2324-9269journal_volume
8pub_type
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