Hereditary Hearing Loss Homepage Updates Log

On the Stickler syndrome page:

  • Corrected OMIM link for OSMEDB.
  • Clarified in Note 1 that dominant OSMED is the same as nonocular Stickler syndrome.

Added LOXL3 to Stickler syndrome genes (Alzahrani et al., 2015).

Added DAP3 (PRLTS7) to Perrault syndrome genes (Smith et al., 2025). 

Added THBS1 to ARNSHL genes (Bharadwaj et al., 2024).

Added POLR1D (TCS2) to autosomal recessive Treacher-Collins syndrome genes (Schaefer et al., 2014).

Removed DFNA31.

Per correspondence from Dr. Hannie Kremer, the family in which DFNA31 was identified was studied in her lab and the 12-nucleotide RIPOR2 deletion underlying DFNA21 segregates with hearing loss in the family.  Thus, DFNA31 does not exist.

Added IKZF2 to ADNSHL genes (Velde et al., 2024).

Added OMIM locus identifier OTSC12 for SMARCA4.

Added MAP3K1 to ARNSHL genes (Faridi et al., 2024).

Added OMIM locus identifier DFNB125 for GAS2.