Targeted gene under study:
KMT2A (OMIM 605130)
Abstract
Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant syndrome due to the loss of function of the KMT2A gene, which affects chromatin opening. Diagnosis is often considered in childhood based on short stature, neurodevelopmental disorders, morphological features and hypertrichosis of the elbows. Despite WSS has been widely described in children, it is poorly described in adults. Our aim is to describe the first cohort of adult WSS to assess their neurodevelopmental trajectory, socio-professional integration and age-specific co-morbidities. Additionally, we aim to investigate the potential existence of a genotype-phenotype correlation within this cohort.
With your help, we would like to collect clinical and biological data of patients over 15 years old carrying pathogenic or probably pathogenic variants in KMT2A. We’re particularly interested in the results of any neuropsychological assessments and their co-morbidities.
Coordinating team
Solveig HEIDE – solveig.heide@aphp.fr
Uriel BENSABATH – uriel.bensabath@aphp.fr
Institution
Hôpital La Pitié Salpêtrière – Service 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