Research Project

Project Title:

Renal involvement in Coffin Siris syndrome

Project Type:

Observational Study, Enrolment ongoing

Disease group(s):

Metabolic & stone disorders

Project Summary:

Coffin Siris syndrome is a rare disease (< 1/1 000 000), associating neurological damage such as intellectual disability, digital and facial malformations, ophthalmic, dermatological, cardiological and kidney damage.
Actually, 12 genes were found providing the SCS phenotype, via the coding of a subunit of the BAF complex.
The renal damage associated with Coffin-Siris syndrome in the literature is only represented by renal and urinary tract malformations (horseshoe kidney, reflux, hydronephrosis) whose frequency remains a priori low, estimated at 12-15%.
However, several observations report tubular-like damage (nephrocalcinosis ; lithiasis) without this being associated with renal malformations, the mechanisms of which are currently unknown.
We would therefore like to identify all European cases of Coffin Siris in order to determine :
1) The frequency of kidney damage
2) The frequency of nephrocalcinosis / renal lithiasis disease (renal ultrasound)
In a second step and after identification of patients with nephrocalcinosis and/or stone kidney disease, perform routine urinary and blood tests to determine the mechanisms.

Lead principal investigator(s):

Stephane Decramer, Toulouse
Colliou Eloise, Toulouse

Project Period:

01/2023   -   12/2025

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