Supplementary Figure 2: Segregation analysis of the JAGN1 mutation identified in the index family (pedigree A). | Nature Genetics

Supplementary Figure 2: Segregation analysis of the JAGN1 mutation identified in the index family (pedigree A).

From: JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Supplementary Figure 2

The mutation shows perfect segregation with the disease, with all affected individuals (P1–P5) homozygous for the mutation (c.3G>A; p.Met1Ile). All parents are heterozygous, and the non-affected sibling II-1 is a heterozygous carrier of the mutation. No DNA material was available for the study of the non-affected sibling II-5.

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