PMC5138217_01
Family pedigree and genomic sequence electropherograms. (A) Family pedigree. The jALS patient was born to consanguineous Chinese parents. All of his parents and young brother were healthy. Males and Females are represented as squares and circles, respectively. The filled symbol represents the affected patient while unaffected individuals are represented by clear symbols. Crossed circles or squares represent deceased individuals. A double line indicates consanguineous mating. (B) Genomic sequence electropherograms. The jALS patient carried a novel homozygous c.1483A>G (p.Met495Val) missense mutation of the DDHD1 gene, which was not detected in 800 healthy unrelated Chinese individuals. All of his parents and young brother were heterozygous for this mutation. Pedigree analysis suggested that the disease is consistent with autosomal recessive inheritance.
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F1
Gene screens for the causative genes of ALS, HSP, and CMT using NGS technologies identified a novel homozygous c.1483A>G (p.Met495Val)(RefSeq NM_001160147.1) missense mutation of the DDHD1 gene in the patient (Figure 1B), which was verified by Sanger sequencing. Meanwhile, Sanger sequencing revealed all of his parents and young brother were heterozygous for this mutation (Figure 1B).