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. 2021 Feb 26;17(2):e1009306. doi: 10.1371/journal.pgen.1009306

Fig 3. Genetic testing in families OP-6, OP-596 and individuals OP-3141 and OP-3399 identifies disease causing mutations in the genes DNAAF7, DNAAF4 and DNAAF6, encoding axonemal dynein assembly factors.

Fig 3

(A) DNAAF7 (CCDS2825.1) is located on chromosome 3p21.31 (orange mark in the chromosome schematic) and consists of 12 exons encoding a 440 amino acid protein. A testis specific isoform comprising only 11 exons, due to selection of an alternative splicing acceptor site is annotated (CCDS77747.1). (B) Sanger sequencing of PCD family OP-596 confirms DNAAF7 compound heterozygous missense and insertion mutations (Exon 1: c.47T>G; p.Val16Gly and Exon 5: c.490dupC; p.Gln164Profs*19) in affected individual OP-596 II2 (indicated in dark orange). (C) Sanger sequencing of PCD family OP-6 confirms a DNAAF7 homozygous missense mutation (Exon 1: c.47T>G; p.Val16Gly) in affected individual OP-6 II5 (indicated in dark orange) and affected sibling OP-6 II6. (D) DNAAF4 (CCDS10154) is located on chromosome 15q21.3 (orange mark in the chromosome schematic) and consists of one non-coding and nine coding exons, encoding a 420 amino acid protein. Sanger sequencing (bottom of the figure) for PCD affected individual OP-3399 confirms a homozygous nonsense mutation in Exon 2 (c.31C>T; p.Gln11*). (E) DNAAF6 (CCDS14528) is located on the chromosome Xq22.3 (orange mark in the chromosome schematic) and consists of two non-coding and six coding exons, encoding a 214 amino acid protein. PCR amplification (lower figure in E) confirms a deletion of all DNAAF6 exons in PCD affected individual OP-3141 compared to control. To demonstrate DNA integrity of OP-3141 we amplified Exon 3 from the DNAI1 (ic: internal control) gene in OP-3141 and the control. Ex: exon; ins: insertion.