The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Table 2 Mutation and variation spectra for selected dominant HSP genes

Gene (HSP sybtype)	SPAST (SPG4)	REEP1 (SPG31)	KIAA0196 (SPG8)
Relevant pathomechanism	Haploinsufficiency	Haploinsufficiency	(controversial)
Large inactivating deletion mutations in HSP patients	yes [33]	yes [44]	no [present study]
Fraction of small stop/indel mutations in HSP patients	~45 % [45]	~60 % [44, 46]	0 % [10, and references therein]
Small stop/indel variants listed in exome variant server	0	0	3

ISSN: 1750-1172