Fig. 1

Pedigree of patient 1, pure-tone audiograms, radiological examinations, and sequence electropherogram. a The proband’s parents are first-degree cousins. There is no family history of CAGSSS. Genotype results for the c.2725C > T variant are represented under the tested individuals. b Pure-tone audiograms from proband 1 at 16 (red) and 20 (blue) years of age reveal stable, sensorineural hearing loss. Right air conduction (circle), unmasked bone conduction (bracket), and masked bone conduction (<) and left air conduction (x) and unmasked bone conduction (>) are shown from left to right, respectively. c Radiological images depicting epiphyseal dysplasia of the distal radius and fingers with tapering (left) and right hip with shortened femoral neck due to metaphyseal dysplasia (right). d Electropherograms of the homozygous proband (upper panel) and representative heterozygous electrophenogram from a parent (lower panel) showing the nucleotide and amino acid exchange. The variant position is marked with a red arrow