Targeted gene under study:
RPS6KA3 (OMIM 300075)
Abstract
The Coffin-Lowry Syndrome (CLS) (OMIM 303600) is a rare condition linked to the loss of function of the RPS6KA3 gene on the X chromosome. The diagnosis is often clinically suggested in boys, whose symptoms include hypotonia, developmental delays, intellectual disability (ID), and skeletal abnormalities such as short stature and cranio-facial peculiarities. In women, the presentation encompasses a different clinical spectrum, with a less severe intellectual impairment. Their diagnosis is often only considered in adulthood, following a diagnosis in a male family member. The lack of awareness of the female phenotype hinders the establishment of appropriate care for conditions specific to the syndrome, especially neurological and orthopedic ones, and the provision of information and genetic counseling for families. We are interested in female carriers of pathogenic variants in RPS6KA3, both index cases and those identified by cascade testing. We will need clinical features focusing particularly on neurodevelopmental data, as well as the genetic variants.
Coordinating clinicians
Anna Gerasimenko – anna.gerasimenko@aphp.fr
Delphine Héron – delphine.heron@aphp.fr
Institution
Hôpital La Pitié-Salpêtrière – Service de Génétique clinique, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No