Open Access14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
Author(s) -
Ponzi Emanuela,
Gentile Mattia,
Agolini Emanuele,
Matera Emilia,
Palumbi Roberto,
Buonadonna Antonia Lucia,
Peschechera Antonia,
Gabellone Alessandra,
Antonucci Maria Fatima,
Margari Lucia
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1289
Subject(s) - corpus callosum , hypotonia , microdeletion syndrome , candidate gene , intellectual disability , phenotype , genetics , hypoplasia , epilepsy , speech delay , psychomotor retardation , optic nerve hypoplasia , global developmental delay , medicine , biology , gene , pathology , neuroscience , anatomy , alternative medicine
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 FOXG 1(*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.