Fig. 1 | Genetics in Medicine

Fig. 1

From: Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

Fig. 1The alternative text for this image may have been generated using AI.

Pedigree, audiograms, and stepwise genetic analysis of family HN-SD01. (a) Individuals selected for linkage analysis and exome sequencing are marked with asterisks and red rectangles, respectively. Black and white symbols each represent affected and normal individuals. Gray symbols with question mark indicate individuals with uncertain phenotypes. Proband IV:12 is indicated by an arrow. “+” indicates the reference allele. Genotypes of the two candidate variants (C denotes NM_001184998.1:c.3122T>C in KIAA0430; G denotes NM_004996.3:c.1769A>G in ABCC1) are shown for all family members. Individual III:2 (73 years old), highlighted by the red oval, harbors a key recombination event. (b) Audiograms of the affected individuals in family HN-SD01. Individuals IV:12 and V:11 were followed up for two years. (c) Stepwise genetic analysis strategy. (d) Multipoint parametric linkage analysis demonstrated a linkage interval with maximum logarithm of the odds (LOD) scores of 3.149 in chromosome 16. (e) Sequence analyses of wild type and variant identified in family HN-SD01. (f) Asn590 of ABCC1 is highly conserved through evolution. ES exome sequencing, rRNA ribosomal RNA, WT wild type.

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