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. Author manuscript; available in PMC: 2017 Jul 1.
Published in final edited form as: Clin Genet. 2015 Dec 21;90(1):90–95. doi: 10.1111/cge.12694

Fig. 1.

Fig. 1

Congenital skeletal dysplasia and hearing loss phenotypes in family LUAB01 co-segregate CHST3 mutation. (a) Family LUBA01 pedigree. Filled and empty symbols represent affected and unaffected individuals, respectively. A double line uniting two individuals represents consanguineous marriage. Genotypes of all the participating individuals are shown. (b) Photographs of individuals homozygous for CHST3 allele. (c) Wild type and homozygous mutant nucleotide sequence chromatograms of exon 2 of CHST3 illustrating homozygosity for the c.802G>T (p.Glu268*) mutation. (d) ClustalW multiple sequence alignment of the 23 amino acids of CHST3 shows that p.Glu268 and downstream residues are conserved across species. Amino acids are numbered with reference to GenBank Accession number NP_004264.2. (e) A homology model of the sulfotransferase domain of CHST3 constructed using Phyre2 and c4gbmA as a template. The location of p.Glu268 residue (red) is shown along with the terminal amino-acids.