Figure 1
From: Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
Pedigrees of families 2254 and 2986, pure tone audiometry and detail of identified and reported variants. (A) Pedigree of family 2254 showing co-segregation of c.600G > A in GPR156 with hearing loss. Shaded symbols represent affected individuals and double lines indicate consanguineous marriage. Arrow indicates proband for which exome sequencing was performed. (B) Audiograms from better hearing ears of individuals II:1, II:2 and II:3 showing moderate hearing loss. (C) Pedigree of family 2986. The variant c.1863dupG co-segregates in the family with hearing loss. (D) Schematic representation of GPR156 (NM_153002.3) gene and encoded protein (NP_694547.2). GPR156 consists of a total of 10 exons and the novel variants identified are present in exon 6/10 and 10/10. The encoded functional protein is comprised of 814 amino acids. It has a small extracellular region (green, amino acids 1–47), 7 coiled coil regions (21 amino acids each) present in the membrane and a long cytoplasmic tail (red, amino acids 310–814). The novel variants are shown at the bottom and reported ones at top. (E,F) GPR156 exon 6 inserted into the pET01 exontrap vector. Gel electrophoresis after PCR amplification of extracted cDNA from HEK293 cells transfected with empty vector, a wild type and mutant construct. The Sanger sequencing showed the deletion of 12 nucleotides (red arrow) and skipping of exon 6 in the mutant construct. The traces for exon-to-exon boundaries are underlined.
