HDAC8 (OMIM #300882)
Cornelia de Lange syndrome 5

Abstract
Cornelia de Lange syndrome 5 is a rare X-linked dominant syndrome characterized by the association of short stature, small head, ID, behavioral abnormalities, dysmorphic features, hypogonadism, truncal obesity, high/cleft palate, tooth abnormalities, nevus flammeus, cutis marmorata, genitourinary abnormalities and brachydactyly. The symptoms in females may be very variable.

We aim to report a patient – a girl who developed bilateral Wilms tumors with metastatic spread and – if possible – collect clinical and molecular data of more patients with HDAC8 who developed cancer, in order to confirm that ChiCaP is part of the phenotype.

Coordinating clinicians and/or researchers:
Ann Nordgren

Institution:
Department of Molecular Medicine and surgery, Karolinska Institute, Stockholm, Sweden

DISCOVERY GROUP

RIT1 (OMIM #163950)
Noonan syndrome

Abstract
Noonan syndrome caused by pathogenic variants in RIT1 is characterized by characteristic craniofacial features, ptosis, low set ears, webbed neck, short stature, high palate, hair, skin and tooth abnormalities, motor developmental delay, learning disabilities, cryptorchidism, urinary abnormalities, cardiomyopathy, pulmonary aortic or valve stenosis, and abnormal lymphatic development (>50%).

We aim to report a patient – a male who developed lymphoma and secondary AML and – if possible – collect clinical and molecular data of more patients with RIT1 who developed cancer, in order to confirm that ChiCaP is part of the phenotype.

Coordinating clinicians and/or researchers:
Ann Nordgren

Institution:
Department of Molecular Medicine and surgery, Karolinska Institute, Stockholm, Sweden

DISCOVERY GROUP

More coming soon…