SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Joubert syndrome (JS) is a genetic neurodevelopmental condition diagnosed by characteristic brain imaging findings in patients with abnormal eye movements, ataxia, and cognitive impairment. Until recently, all JS patients have been consistent with autosomal or X-linked recessive inheritance of variants in one of >40 ciliary genes. This study and other recent work demonstrate that dominant inheritance of SUFU loss-of-function variants cause a spectrum of neurological involvement from classic JS, to isolated abnormal eye movements, to subtle brain imaging abnormalities in the absence of neurological symptoms. These findings will help avoid missed diagnoses and improve prognostic, recurrence risk, and treatment recommendations. (By Professor Enza Maria Valente, https://jmg.bmj.com/content/early/2021/10/20/jmedgenet-2021-108114 )

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