Genes and Mutations in Hearing Impairment - Genetics of Auditory Disorders - page 37

TABLE 2.4. Transcription factor genes responsible for SHL

Transcription

Dom/ Factor Gene Transcription Factor

Syndrome Rec Affected tissues (homologue) Protein type Reference

Waardenburg Dom Inner ear; skin, hair & eye PAX3 PAX family with paired Read and Newton 1997

syndrome type 1 pigmentation; lateral (Mouse splotch ) domain & homeodomain

displacement of eyes

Waardenburg Dom Inner ear; skin, hair & eye MITF Basic helix-loop-helix Read and Newton 1997

syndrome type 2 pigmentation (Mouse leucine zipper

microphthalmia )

Waardenburg Dom Inner ear; skin, hair & eye PAX3 PAX family with paired Read and Newton 1997

syndrome type 3 pigmentation; limb (Mouse splotch ) domain & homeodomain

anomalies

Brachio-Oto-Renal Dom Inner ear, Kidney EYA1 Transcriptional co-activator Abdelhak et al. 1997

(BOR) syndrome ( Drosophila eyes

absent )

Townes-Brocks Dom Ear, anal, renal, and limb SALL1 Zinc finger transcription Kohlhase et al. 1998

syndrome (TBS) anomalies ( Drosophila spalt ) factor

Dom = dominant; Rec = recessive.