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Fig. 2 | Human Genomics

Fig. 2

From: Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Fig. 2

Clinical and research-based genetic analysis. a Pedigree of family DM165. b Schematic of human chromosome 16. The ~20 Mb region of homozygosity identified in the proband is outlined with a red rectangle. The genomic location of IFT140 is indicated with a red star. The 823 variants extracted from the exome data are indicated as homozygous (HOM; red) or heterozygous (HET; blue); pale blue circles indicate homozygous variants of unambiguous maternal origin (n = 111). c Sequence chromatograms identified a homozygous IFT140 c.634G>A; p.Gly212Arg mutation that does not segregate in a Mendelian fashion. The mutation location at the exon 6 canonical splice donor site is indicated with a red star. d Expanded representations of chr16p in each of the proband, maternal, and paternal samples. Colors are indicated as described for panel b

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Human Genomics

ISSN: 1479-7364