Ten members of the Israeli family (P1, P2, their four parents, their
three healthy siblings including two sisters and one brother, a grandmother
of P1) and five members of the Portuguese family (P5, P6, their two parents,
their healthy brother) were genotyped with the Affymetrix genome-wide SNP
6.0 array. Genotype calling was achieved with Affymetrix
Power Tools(
www.affymetrix.com/partners_programs/programs/developer/tools/powertools.affx)
for all the genotyped family members. We discarded monomorphic SNPs, SNPs
with a call rate lower than 100% and SNPs presenting more than one
Mendelian inconsistency in the family. SNPs were further filtered with
population-based filters. We then used the high-quality SNP markers to carry
out linkage analysis, assuming autosomal recessive inheritance with complete
penetrance (homozygosity mapping). Parametric multipoint linkage analysis
was carried out with Merlin (
Abecasis et al.,
2002).
Zhang S.Y., Clark N.E., Freije C.A., Pauwels E., Taggart A., Okada S., Mandel H., Garcia P., Ciancanelli M.J., Biran A., Lafaille F.G., Tsumura M., Cobat A., Luo J., Volpi S., Zimmer B., Sakata S., Dinis A., Ohara O., Garcia Reino E.J., Dobbs K., Hasek M., Holloway S.P., McCammon K., Hussong S.A., DeRosa N., Van Skike C.E., Katolik A., Lorenzo L., Hyodo M., Faria E., Halwani R., Fukuhara R., Smith G.A., Galvan V., Damha M.J., Al-Muhsen S., Itan Y., Boeke J.D., Notarangelo L.D., Studer L., Kobayashi M., Diogo L., Fairbrother W., Abel L., Rosenberg B., Hart J., Etzioni A, & Casanova J.L. (2018). Inborn errors of RNA lariat metabolism in humans with brainstem viral infection. Cell, 172(5), 952-965.e18.