Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.

Abstract

Background: Apparently balanced translocations (ABTs) are a widely used tool for delineating candidate regions for genotype-phenotype correlation of Mendelian diseases, and with the advance of new technologies new methods are emerging to help us in this search. Case presentation: We presente a patiente with developmental deficit associated with an apparently balanced "de novo"translocation [t(1;8)(p32.2;q13)] Chromosomal microarray analysis detected a non-pathogenic deletionin 15q12 (27,151,153-27, 173,084). Further mate-pair sequencing revealed that the breakpoint 8 is located in the region th at encompasses the SLCO5A1 gene. Conclusions: Although the SLCO5A1 gene is disrupted by the balanced translocation, our patient does not present clinically for Mesomelia-synostosis syndrome. Our findings seek to elucidate the etiology of this disease and support the hypothesis that combined haploinsufficiency of SULF1 and SLCO5A1 is required.