Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Antonis VerverisRana DajaniPantelitsa KoutsouAhmad AloqailyCarol Nelson-WilliamsErin LoringAla ArafatAmmar Fayez MubaidinKhalid HoranyMai B BaderYaqoub Al-BahoBushra AliAbdurrahman MuhtasebTyrone DeSpenzaAbdelkarim A Al-QudahLefkos T MiddletonEleni Zamba-PapanicolaouRichard LiftonChristodoulou KyproulaPublished in: Journal of medical genetics (2019)
In conclusion, the homozygous SIGMAR1 c.500A>T mutation causes dHMN of the Jerash type, possibly due to a significant drop of protein levels. This finding is in agreement with other SIGMAR1 mutations that have been associated with autosomal recessive dHMN with pyramidal signs; thus, our findings further support that SIGMAR1 be added to the dHMN genes diagnostic panel.