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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Fig. 1

(A) The pedigree of the family. The proband who was subjected to WES is marked with an arrow (V-1). The genotype (heterozygous or homozygous) pattern of two variants in both genes (PDE6C and PDZD7) are schematically shown by red circle and green rectangle. The adjacent variants in affected members are in cis configuration. (B & C) The electropherograms of the variants. (B) co-segregation analysis for PDE6C gene variant and (C) co-segregation analysis for the PDZD7 gene variant. Both variants are in heterozygous state in the parents (IV-4 and IV-5) and their healthy son (V-4), but homozygous in three affected girls (V-1, V-2 and V-3). (D) Pure tone audiogram of patients (D1, D2 and D3 are for case#1 (V-1), case#2 (V-2) and case#3 (V-3), respectively). Audiogram indicates moderate to severe NSHL in both ears. Frequency in hertz (Hz) and the hearing threshold in decibels (dB) are shown

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BMC Medical Genomics

ISSN: 1755-8794

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