Additional file 1 of ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Additional file 1: Supplementary Tables 1 – Haplotypes of the alleles present in the patients in the region surrounding the ATAD3A gene. Supplementary Tables 2 – Summary of reported patients with ATAD3A mutations. Supplementary Tables 3 – Summary of reported variants in the ATAD3A gene. Supplementary Tables 4 – Clinical picture of patients carrying p.Leu77Val variant in addition to a null allele. Supplementary Tables 5 – Sorting of variants according to their impact. Supplementary Fig. 1: Lifespan of patients with deduced combinations of variants. Supplementary Fig. 2: The variants plotted across the ATAD3A protein scheme. Supplementary Tables 6 – Sequences of primers used for long-range PCR and for breakpoint and exon 2 sequencing.补充材料1：补充表1——ATAD3A基因周边区域内患者携带的等位基因单倍型。补充表2——已报道的携带ATAD3A突变的患者概况汇总。补充表3——已报道的ATAD3A基因变异位点汇总。补充表4——同时携带p.Leu77Val变异与1个无效等位基因的患者临床表型。补充表5——依据变异影响效应分类的变异位点汇总。补充图1——携带经推导变异组合的患者生存期统计。补充图2——ATAD3A蛋白结构示意图中标注的变异位点分布。补充表6——用于长程PCR（long-range PCR）、断裂点（breakpoint）测序及外显子2（exon 2）测序的引物序列。