Clin Exp Otorhinolaryngol.  2022 Feb;15(1):115-118. 10.21053/ceo.2021.01935.

Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion

• Kim BJ
• Jeon H
• Lee SY
• Yi N
• Han JH
• Seo GH
• Oh SH
• Choi BY

• KMID: 2527120
• DOI: http://doi.org/10.21053/ceo.2021.01935

Figure

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  Fig. 1. Pedigrees, genotypes, and phenotypes of the five probands. (A) Black-filled symbols represent hearing-impaired individuals, clear symbols denote individuals with normal hearing, and gray-filled symbols indicate unaffected individuals who are heterozygous for the causative GREB1L variant in the pedigree (non-Mendelian inheritance). Black arrows represent the probands. (B) Auditory brain stem response threshold (ABRT) testing showed no response on both sides in all individuals except SB503, with 85 dB on the left side. (C) Temporal bone computed tomography revealed bilateral inner ear malformations. (D) A Sanger sequencing chromatogram confirmed the presence of each potential causative variant of GREB1L in the SB120, SB259, and SH169 pedigrees. CADV, cochlear aplasia with dilated vestibule; CH 1, cochlear hypoplasia type 1; CC, common cavity; IP-1, incomplete partition type 1.

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