Fig. 2: Identification of CCDC91 pathogenic genes and the prediction of the three-dimensional structure of CCDC91 protein. | European Journal of Human Genetics

Fig. 2: Identification of CCDC91 pathogenic genes and the prediction of the three-dimensional structure of CCDC91 protein.

From: A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis

Fig. 2

a Haplotype analysis of this family reveals a single chromosomal region on chromosome 12 (46.93–56.50 cM) shared by all affected family members, located between rs7296765 and rs10784618. Red bars indicate the shared chromosomal region among affected individuals. b Chromosome 12 multipoint LOD score analysis output, with maximal LOD score was 3.55. c Putative pathogenic genomic interval and location of the mutation on CCDC91 gene (NM_018318.5). d Sanger sequencing revealed a heterozygous splice mutation (c.1101+1 G > A) in this family. e Agarose gel electrophoresis image displaying cDNA fragments from unaffected and affected individuals. “Mutant” represents for affected individuals, and “Wild-type” represents for healthy individuals. f Sanger sequencing of RT-PCR products reveals that the c.1101+1 G > A splice mutation leads to deletion of exon 11 from mature RNA. g Overview of the predicted structure. h The deletion mutation (L309_Q367del) is depicted in lemon yellow, with the residues EALVSAAK (E301-K308) and ETVKAAII (E368-I375), which are immediately adjacent to the mutation in the sequence, shown in orange. i The wild-type CCDC91 protein structure is displayed in gray. j The mutant CCDC91 protein structure is represented in cyan.

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