Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy

Figure 1

Identification of five uniparental isodisomies (iUPD) and five de novo variants among 623 positive cases for ciliopathies genes. (a) Pedigrees and SNP array profiles of the five iUPD implicated in AS (ALMS1), BBS (BBS2 and BBS12), and Mainzer-Saldino syndrome (IFT140). The SNP array data is separated into two panels for each patient. The upper panel shows the B-allele frequency representing the variant status (an allelic composition measurement) for each SNP position. Heterozygous SNP are in the middle (~0.5), while homozygous are at either 0 or 1. This can be used to highlight the loss of heterozygosity regions for all the cases except XV.30. The lower panel shows the log ratio to identify copy number variants (CNV). Above each chromosome map, a “” indicates the gene position. (b) Pedigrees of the five individuals carrying a de novo variant implicated in AS (ALMS1) and BBS (BBS1 and BBS4).

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