Macrocephaly? Don ’t forget SUFU

Pathogenic variants in SUFU (suppressor of fused homolog) are regularly identified in tumour samples and are linked with malignancy by disinhibition of the Sonic Hedgehog (SHH) signalling pathway.(1) In rare cases heterozygous germline variants in SUFU are identified. This heterozygous state is associated with predisposition for various malignancies. The overall risk for tumour development (of any type) in heterozygous individuals is around 68%.(2) Early onset medulloblastoma is the most common tumour type found in 50% of the patients with a median age of 18 months at diagnosis.(2) In addition to predisposition to malignancies, SUFU haploinsufficiency has also been associated with macrocephaly (3, 4), Gorlin syndrome (5-7) as well as with a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.(8-11)
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Correspondence Source Type: research