Fig. 1: Pedigree structure and variants identified in the AGBL5 cohort. | European Journal of Human Genetics

Fig. 1: Pedigree structure and variants identified in the AGBL5 cohort.

From: Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

Fig. 1

a–h Pedigrees of the families included in this study and segregation analysis of the identified disease-causing variants. Probands are indicated by arrows. Filled symbols denote affected individuals and color indicates phenotype (black, RP and post-verbal SNHL; blue, profound prelingual deafness; green, isolated deafness). Variant positions refer to the RefSeq transcript sequences NM_021831.6 (AGBL5), NM_016239.4 (MYO15A) and NM_004004.6 (GJB2). i Schematic representation of the relative position of the variants identified in this study (in green) across the AGBL5 gene structure and in the context of the AGBL5 protein domains (dotted boxes). Novel variants are shown in bold. Variants already reported in the literature in cases with non-syndromic RP are shown in red font.

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