Sawada et al. (2003) studied a girl with a balanced de novo translocation, t(9;20)(q33.2;q12), who had congenital agammaglobulinemia and minor facial anomalies; she lacked B cells in peripheral blood and showed epicanthic folds, mild hypertelorism, high-arched palate, and ... Sawada et al. (2003) studied a girl with a balanced de novo translocation, t(9;20)(q33.2;q12), who had congenital agammaglobulinemia and minor facial anomalies; she lacked B cells in peripheral blood and showed epicanthic folds, mild hypertelorism, high-arched palate, and lowered ears.
In a girl with a balanced translocation, t(9;20)(q33.2;q12), who had congenital agammaglobulinemia, Sawada et al. (2003) isolated the LRRC8 gene at the translocation site on chromosome 9. The translocation truncated the LRRC8 gene, resulting in deletion of the ... In a girl with a balanced translocation, t(9;20)(q33.2;q12), who had congenital agammaglobulinemia, Sawada et al. (2003) isolated the LRRC8 gene at the translocation site on chromosome 9. The translocation truncated the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains (608360.0001) located close to the C terminus. Transplantation experiments with murine bone marrow cells that were forced to express the truncated LRRC8 showed that expression of the truncated protein inhibited B-cell development, producing a dominant-negative effect. The results indicated that LRRC8 is required for B-cell development.