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. 2016 May 6;53(9):608–615. doi: 10.1136/jmedgenet-2016-103832

Figure 1.

Figure 1

Pedigrees and schematic representation of CEP120. (A) Genomic structure and mRNA transcript of CEP120 full-length isoform with 21 exons is shown. Untranslated regions (UTR's) are represented by half-height boxes. The location of the mutations is indicated by M1–M9. (B) Pedigrees of the affected families with ancestries of Italy (COR391), USA (MTI-143), Palestine (MTI-991), India (MTI-1516), Turkey (Meckel syndrome (MKS)-2930) and Belgium (SW-476410), respectively, is shown demonstrating the segregation of the compound heterozygous mutations in non-consanguineous families and homozygous mutations in consanguineous families. (C) Evolutionary conservation of affected amino acid residues in CEP120 is shown. The mutated amino acids are indicated in grey and completely conserved in all species shown. JS, Joubert syndrome; M, mutation; TCDOE, tectocerebellar dysraphia with occipital encephalocele. See online supplementary figure S1 for the chromatograms of mutation M1 in CEP120 (remaining mutation data not shown).