Targeted gene(s)/phenotype under study :
- CDK10 (OMIM 603464)
- Phenotype: intra uterine growth retardation – Postnatal growth retardation with low weight and small head circumference – Intellectual disability, moderate to severe – Hypotonia – Thin corpus callosum – Dysmorphic facial features – Naevus flammeus – Hand anomalies – Atrial septal defect – Characteristics spinal segmentation defects – orthopaedic anomalies
- AL KAISSI Syndrome (OMIM 617694)
Up to now only 10 patients from 6 unrelated families have been reported in the literature with bi allelic variants in CDK10. Main clinical features are developmental delay, pre and postnatal growth retardation with microcephaly, dysmorphic facial features, skin abnormalities (with angioma or neavus flammeus of the glabella), hand anomalies (mainly clinodactyly), anomalies of the corpus callosum and quite characteristics anomalies of the cervical vertebrae.
We have identified 4 new patients from France and Netherlands with compound heterozygous or homozygous variants in the CDK10 gene.
We would like to constitute an European cohort in order to better describe this rare syndrome.
Coordinating clinicians /researchers:
- Dr Elise SCHAEFER
- Dr Juliette PIARD
- Manon CHRETIEN
- HAUTEPIERRE Hospital – 67200 Strasbourg – FRANCE
- SAINT-JACQUES Hospital – 25030 Besançon – FRANCE
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples : No
- Resampling of patients : No
- Linked to a translational/basic research project? No