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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

Fig. 1

Clinical and molecular data of the patients harboring a biallelic homozygous frameshift mutation in EPS8L2. a Pedigree showing the segregation of the mutation in the family. The + and – signs denote the wild type and mutant alleles, respectively. The two clinically affected siblings are indicated by black symbols. The double horizontal bar joining the parents in generation III indicates consanguinity. b Air-conduction audiometric curves for patient IV.2 at the ages of 6 (open symbols) and 10 (black symbols) years of age. For each pure tone frequency tested (from 0.25 to 8 kHz), the hearing thresholds (in dB HL) for the right and left ears are indicated with circles and diamonds, respectively. c DNA sequencing chromatograms showing the mutation (arrow). d Schematic representation of the human EPS8L2 protein. The protein (715 amino acids) contains a phosphotyrosine interaction domain (PID), an SRC Homology 3 (SH3) domain, and an effector region (46 % of amino acid sequence identity with F-actin binding domain of EPS8) including a sterile alpha motif/pointed domain (SAM/PNT)

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