Fig. 1 | Genetics in Medicine

Fig. 1

From: Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

Fig. 1

Family segregation analysis supports the possibility of digenic inheritance of DNAH11 and DNAH2 mutations in patient 998 (▪). A patient with a phenotype consistent with PCD (II-1) was previously found to have a single mutation in DNAH11, which encodes a component of the outer dynein arm. Targeted exome sequencing found no additional possible disease-causing mutations in DNAH11 but identified a heterozygous missense mutation of a highly conserved residue of DNAH2, which encodes a component of the inner dynein arm. Family segregation analysis revealed that the DNAH11 mutation was inherited from the patient's father (I-1), whereas the DNAH2 mutation was inherited from the patient's mother (I-2). Furthermore, the three unaffected siblings were heterozygous for only the DNAH2 allele (brother II-2), heterozygous for only the DNAH11 allele (sister II-4), or wild type for both alleles (brother II-3).

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