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. 2010 Nov 12;87(5):655–660. doi: 10.1016/j.ajhg.2010.09.013

Figure 1.

Figure 1

Identification of MTPAP Mutation in Amish Pedigree

(A) Pedigree diagram of Amish family.

(B) Marker genotypings across the region of homozygosity identified by whole-genome SNP analysis. Initial genome-wide screen was undertaken in individuals IX-2, IX-3, IX-4, and IX-5 for which samples were available at the time. The region of autozygosity defined was delimited by SNPs rs1144522 and rs910967. The mutation (NC_000010.10: g.30602855T>C; NM_018109.3: c.1432A>G) is shown in red. All affected individuals, including IX-6 and IX-7, were subsequently found to be homozygous for the c.1432A>G variant, whereas parental samples and the unaffected sibling were carriers.

(C) Electropherograms showing MTPAP exon 9 sequence encompassing the NM_018109.3: c.1432A>G variant in a wild-type (WT) control, a heterozygous carrier parent, and a homozygous affected individual.

(D) ClustalW2 alignment of the region encompassing the PAP/25A-associated domain of MTPAP from various species. Amino acid altered by the c.1432A>G substitution (p.N478D) is indicated with the red arrow.