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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Figure 1

Identification of AKR1D1 and SKIV2L mutations in a multiple-consanguineous family with severe infantile liver disease. The initial proband investigated is patient 1 (V:4; P1) her cousin (V:7; P2) is patient 2 and affected sibling (V:8; P3). Solid symbols represent affected individuals. The segregation of the 2 mutations identified are shown. The upper mutation is a homozygous single base G deletion in AKR1D1 leading to a frameshift and premature stop codon (c.587delG; p.Cys196SerfsX11) and lower mutation a single base C deletion in SKIV2L leading to a frameshift and premature stop codon (c.3391delC;p.Leu1131SerfsX5).

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