Skip to main content
. 2014 Jan 29;22(10):1180–1184. doi: 10.1038/ejhg.2014.5

Figure 1.

Figure 1

Pedigree of the family segregating HSP and analysis of the ATL1 mutation. (a) The consanguineous family consists of two loops with two first-cousin marriages and six male individuals affected by pure HSP (filled symbols). The genotype at cDNA position 353 of ATL1 is shown below each symbol. Affected individuals are homozygous for the c.353G>A p.(Arg118Gln) mutation, whereas seven heterozygous family members are asymptomatic. The two females II:1 and II:4 are distantly related, but the precise relationship was unclear. (b) Sequence chromatogram showing part of ATL1 exon 4 (NM_001127713.1) obtained from a healthy control (top), individual III:6 (middle) and the affected individual III:1 (bottom). The ATL1 mutation c.353G>A p.(Arg118Gln) is indicated by an arrow. The asterisk denotes a synonymous SNP (rs1060197) with allele frequencies 0.19/0.81 (dbSNP) and without predicted effects. (c) Relative position of the p.(Arg118Gln) substitution in the GTPase domain of the atlastin-1 protein (top) and degree of conservation of the Arg118 residue (shaded) across different species. N, N-terminus; M, middle domain; TM, transmembrane domains.