Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder characterized by diverse phenotypes including intellectual disability, facial and digital anomalies. Loss-of-function mutations in the Ribosomal Protein S6 Kinase Polypeptide 3 (RPS6KA3) gene have been shown to be responsible for CLS. Among the large number of mutations, however, no exonic mutation causing exon skipping has been described.

Relationship between the length of the uterine cavity and clinical pregnancy rates after in vitro fertilization or intracytoplasmic sperm injection.

In this prospective clinical study involving 354 IVF-intracytoplasmic sperm injection cycles, we determined the influence of the length of the uterine cavity on clinical pregnancy rates. Our data showed that clinical pregnancy and implantation rates are associated positively with an increased length of the uterine cavity.