de Mello, Claudia B.
de Paula Ramos, Marco A.
Melaragno, I, Maria
Número total de Autores: 7
Afiliação do(s) autor(es):
 I, Univ Fed Sao Paulo, Dept Morphol & Genet, Genet Div, Sao Paulo - Brazil
 Univ Fed Sao Paulo, Psychobiol Dept, Sao Paulo - Brazil
 Friedrich Schiller Univ, Jena Univ Hosp, Inst Human Genet, Jena - Germany
Número total de Afiliações: 3
Tipo de documento:
Cytogenetic and Genome Research;
Citações Web of Science:
Balanced chromosomal rearrangements are usually associated with a normal phenotype, although in some individuals, phenotypic alterations are observed. In these patients, molecular characterization of the breakpoints can reveal the pathogenic mechanism, providing the annotation of disease-associated loci and a better genotype-phenotype correlation. In this study, we describe a patient with a balanced reciprocal translocation between 4q27 and 7p22 associated with neurodevelopmental delay. We performed cytogenetic evaluation, next-generation sequencing of microdissected derivative chromosomes, and Sanger sequencing of the junction points to define the translocation's breakpoints at base pair resolution. We found that thePCDH10andTNRC18genes were disrupted by the breakpoints at chromosomes 4 and 7, respectively, with the formation of chimeric genes at the junction points. Gene expression studies in the patient's peripheral blood showed reduced expression ofTNRC18, a gene with unknown function and clinical significance.PCDH10plays a role in the development of the nervous system and might be involved with the patient's neurodevelopmental delay. In this study, the full molecular characterization of the junction points was shown as an efficient tool for fine breakpoint mapping in balanced translocations in order to unmask gene disruptions and investigate the potential pathogenic role of the disrupted genes. (AU)