Discovery of a new autosomal recessive HSP gene: SPTAN1

09/12/2019 | International

Autosomal recessive mutations in the SPTAN1 gene cause a new form of HSP.

In a screening of > 380 families with HSP, scientists at McGill University in Montréal (Canada) succeeded in identifying a new autosomal recessive HSP gene. Mutations in the Alpha II - Spectrin gene SPTAN1 were identified in two HSP families. Interestingly, heterozygous de novo mutations in the SPTAN1 gene lead to early onset epileptic encephalopathy (OMIM #613477). The mechanisms leading to the development of these two different phenotypes are still unclear.

Reference: Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupre N, Trempe JF, Rouleau GA, Gan-Or Z. SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. J Hum Genet. 2019;64(11):1145-51.