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. Author manuscript; available in PMC: 2018 Aug 16.
Published in final edited form as: Hum Genet. 2018 Jul 3;137(6-7):471–478. doi: 10.1007/s00439-018-1899-7

Fig. 1.

Fig. 1

Pedigree drawing of family 4755, audiograms for the affected family members, and p.Ile369 residue conservation. a Pedigree of family 4755 with segregation of the c.1106T>C:p.Ile369Thr variant in LMX1A. b Pure-tone audiometry audiograms for affected family members IV:1 (top; age 12) and IV:2 (bottom; age 15); x represents the results for the left ear and o for the right ear. Audiograms show a severe-to-profound hearing impairment with a slight slope with the higher frequencies affected more severely. c Conservation of the C-terminal LMX1A domain and p.Ile369 residue (arrow) amongst species and closest human paralog LMX1B. The p.Ile369 residue is highly conserved across species and human paralog LMX1B. green = high conservation; grey = medium conservation