Kortüm F , Caputo V , Bauer CK , Stella L , Ciolfi A , Alawi M , Bocchinfuso G , Flex E , Paolacci S , Dentici ML , Grammatico P , Korenke GC , Leuzzi V , Mowat D , Nair LD , Nguyen TT , Thierry P , White SM , Dallapiccola B , Pizzuti A , Campeau PM , Tartaglia M , Kutsche K .

	Figure 2: Clinical features of ZLS-affected individuals with a KCNH1 or ATP6V1B2 mutation. a–d) Facial phenotype of subjects (S) with KCNH1 mutation: S1 (a), S3 (b), S4 (c) and S5 (d). Note the central incisor in S3 and gingival enlargement in S3 and S5. For a detailed description, see Supplementary Table 5. (e,g) S1 shows anonychia of the right great toe and hypoplastic nails of all other right toes and fingers of left hand. (f,h) Radiographs of S1 showing hypoplastic terminal phalanges of the thumb, great toe and third to fifth toes and aplastic terminal phalanx of the second toe. (i,j) S2 shows aplastic nails of the thumb and first to third toes and hypoplastic nails of all other fingers and toes. (k,l) S4 shows absence of hypoplasia or aplasia of nails and terminal phalanges. (m,n) S5 shows anonychia of the thumbs and great toes and nail hypoplasia of the right fifth finger and right second to fifth toes. (o) S6 shows anonychia of the left great toe and hyponychia of all other toes. (p–r) Facial appearance of subjects with ATP6V1B2 mutation: shown are S7 as a neonate (p) and at age 12 years (q) and S8 (r). (s,t) Gingival enlargement in S7 (s) and S8 (t). (u–x) Anonychia of the hands and feet in S7 and S8. (u,v) S7 shows aplastic terminal phalanges of the second and fifth fingers on the left hand, the fifth finger on the right hand and all toes except the first. (w,x) S8 shows shortened second to fourth fingers, except the third finger on the right hand, and toes. Hypertrichosis occurs in S7 (u,v) and S8 (y). Consent for the publication of photographs was obtained for all individuals. The images in d and t are reproduced from ref. 5. Copyright © 2013 Elsevier Masson SAS. All rights reserved.
	Supplementary Figure 1: Sequence electropherograms of individuals with KCNH1 or ATP6V1B2 mutation.. Sequence electropherograms showing the de novo origin of the identified KCNH1 and ATP6V1B2 missense mutations in subjects 1–8 (upper and lower panels, indicated by red arrows). The heterozygous state of three mutations was documented in peripheral leukocytes, hair bulb and/or buccal cells of subjects 4, 5 and 7, indicating germline origin. An additional previously annotated (ExAC database) heterozygous KCNH1 variant, c.125T>C (p.Ile42Thr), was present in subject 5 and his healthy mother (indicated by blue arrows). By cloning the KCNH1 exon 7–containing amplicon of subject 2 followed by sequencing, we determined the haplotypes and found that the two identified de novo changes c.974C>A and c.1066G>C are in cis (wild-type allele and mutated KCNH1 allele in the middle panel; mutated nucleotides are framed).
	Supplementary Figure 2: Multiple protein sequence alignments around the KCNH1 and ATP6V1B2 amino acid substitutions from different species.