Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene

Camiel J.F. Boon; B. Jeroen Klevering; Carel B. Hoyng; Marijke N. Zonneveld-Vrieling; Sander B. Nabuurs; Ellen Blokland; Frans P.M. Cremers; Anneke I. den Hollander

doi:10.1016/j.ajhg.2007.11.007

Figure 2

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Molecular Genetic Analysis of the CFH Gene in Families Affected with Drusen Maculopathy

(A and B) Seven affected individuals in two families are compound heterozygous for the nonsense mutation Gln408X and the AMD risk allele Tyr402His. Brackets flanking the CFH variants of A-I.3 indicate that they were deduced through CA-marker analysis.

(C) Three affected individuals in a third family are compound heterozygous for the missense variant Arg1078Ser and Tyr402His.

(D) Patient D is homozygous for the Tyr402His variant, and in addition, he carries a heterozygous variant in the splice-donor site of exon 3 (c.350+6T→G).

(E) A patient in a fifth family carries a heterozygous amino acid variant (Arg567Gly) and is heterozygous for the Tyr402His variant. Segregation analysis could not be performed.

Grey pedigree symbols denote patients with basal laminar drusen. The black symbols denote two females affected with AMD. Numbers in the pedigree symbols reflect current age.

(F) Sequences of heterozygous variants detected in the CFH gene.