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. Author manuscript; available in PMC: 2014 Dec 29.
Published in final edited form as: J Med Genet. 2014 Jan 15;51(3):185–196. doi: 10.1136/jmedgenet-2013-101660

Figure 1. Pedigree of family affected with Lenz microphthalmia syndrome (LMS), supporting clinical features, and confirmation by Sanger sequencing.

Figure 1

(A) Pedigree of LMS affected family. Further experimentation and analyses focused on the three living affected brothers (VI-9, VI-10, VI-11), one obligate heterozygote (V-10), one heterozygote identified previously by linkage (V-6) and her daughter (VI-4). Analysis of family pedigree was consistent with sex-linked inheritance. (B) Bilateral anophthalmia is an example of a dysmorphic feature present in patients affected by LMS (VI-9). (C) Haematoxylin and eosin staining of skeletal muscle showing neuropathic degeneration (arrow). (D) Dysmorphic features such as cutaneous syndactyly between the second and third toes and short terminal phalanges are present in a heterozygote (V-10). (E) Sanger sequencing of NAA10 gene (genomic DNA) shows the c.471+2T→A mutation present in all three affected males (VI-9, VI-10, VI-11), their obligate heterozygote mother (V-10), as well as an aunt who was previously suspected as a heterozygote by linkage (V-6) and one of her daughters (VI-4).