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. Author manuscript; available in PMC: 2013 Apr 23.
Published in final edited form as: Nat Genet. 2010 May 16;42(6):486–488. doi: 10.1038/ng.588

Figure 1.

Figure 1

Identification of IQSEC2 mutations. cDNA (NM_001111125) and protein (NP_001104595) annotation of individual mutations is shown for each family. Pedigrees of MRX1 and MRX18 families have been updated since their last publication. Open symbols represent normal individuals, filled squares represent affected males, open circles with middle dots represent carrier females and cross-hatched squares represent males with learning problems but without an IQSEC2 mutation. Two carrier females with some learning problems from the MRX18 and AU128 families are shown with half the circle black. Individual generations are numbered with Roman numerals on the left of each pedigree. Individuals tested for the nucleotide substitution in each family are indicated either M (mutant allele) or M/N (mutant and normal allele). The genotypes of some females tested have not been shown due to privacy issues.