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. 2009 Mar 13;84(3):380–387. doi: 10.1016/j.ajhg.2009.02.005

Figure 1.

Figure 1

Mutations in SPATA7 Cause LCA

(A) The LCA3 critical interval at 14q31. Nine candidate genes within the region are indicated as black bars. SPATA7 is indicated by a black arrow. The chromosome band is modified on the basis of the Ensemble ContigView.

(B) Exon-intron structure of the SPATA7 gene is shown. Open boxes represent 5′ and 3′ UTRs, and solid boxes represent coding exons. A transmembrane domain (TM) is predicted to be encoded in exon 4. Mutations are indicated with arrows.

(C) Pedigrees and sequences of mutations of LCA families. Two different mutations were identified in these three families: all three patients from the KKESH-060 family, c.322C→T (p.R108X); patient no. 12811 from the Dutch family, c.322C→T (p.R108X); patient no. 1617 from the family with mid Eastern origin, c.961dupA (p.P321TfsX326).

(D) Pedigrees and sequences of mutations of juvenile RP families. Two different mutations were identified: patient no. 28608, c.1183C→T (p.R395X); patient no. 1348, c.1546delA (p.Q465fsX505).