Fig. 4

Mutational spectrum of SPG11 gene in Chinese SPG11 patients. a Schematic representation of the mutational location in cDNA of SPG11 gene detected in Chinese SPG11 patients (n = 52). Mutations detected in our cohort are indicated in red characters. Four transmembrane domains (TM1, TM2, TM3 and TM4), Glycosyl hydroxylase F1 signature, Leucine zipper, Coil-coil domain and Myb domain are highlighted. b Pedigree chromatograms and sanger sequencing of four SPG11 families in our cohort. Three probands carried homozygous LOF mutations: c.733_734delAT (p.M245Vfs^*2) in family F1, c.3816delG (p.M1272Ifs^*6) in family F2 and c.6091C > T (p.R2031^*) in family F3. The index case in family F4 carried compound heterozygous LOF mutations: c.1243delA (p.I415^*) (I-2) and c 7041G (p.W2234^*) (I-1). Symbol with “+/+” indicate patient. Symbol with “+/−” indicate mutation carrier; Symbol with “*” indicate the member whose sample was available. Mutations were marked by yellow box