TY - JOUR
T1 - 14q12q13.2 microdeletion syndrome
T2 - Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
AU - Ponzi, Emanuela
AU - Gentile, Mattia
AU - Agolini, Emanuele
AU - Matera, Emilia
AU - Palumbi, Roberto
AU - Buonadonna, Antonia Lucia
AU - Peschechera, Antonia
AU - Gabellone, Alessandra
AU - Antonucci, Maria Fatima
AU - Margari, Lucia
N1 - Publisher Copyright:
© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC
PY - 2020/7/1
Y1 - 2020/7/1
N2 - 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.
AB - 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.
KW - 14q13 microdeletion syndrome
KW - BAZ1A
KW - CNS anomalies
KW - SNX6
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U2 - 10.1002/mgg3.1289
DO - 10.1002/mgg3.1289
M3 - Article
C2 - 32415730
AN - SCOPUS:85084649240
VL - 8
JO - Molecular genetics & genomic medicine
JF - Molecular genetics & genomic medicine
SN - 2324-9269
IS - 7
M1 - e1289
ER -