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

Molecular Genetics & Genomic Medicine

Roberto Palumbi¹  Antonia Peschechera¹  Lucia Margari¹  Emilia Matera¹  Alessandra Gabellone¹  Maria Fatima Antonucci²  Antonia Lucia Buonadonna²  Emanuela Ponzi²  Mattia Gentile²  Emanuele Agolini³ 

[1] Basic Medical Sciences Neuroscience and Sense Organs Department University of the Study of Bari “Aldo Moro” Azienda Ospedaliero‐Universitaria Consorziale Policlinico di Bari Bari Italy;Department of Medical Genetics Di Venere Hospital ASL BARI Bari Italy;Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital Rome Italy;

关键词: 14q13 microdeletion syndrome;    BAZ1A;    CNS anomalies;    SNX6;   

DOI  :  10.1002/mgg3.1289

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown