Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Fig. 1

Pedigree and sequence analysis of OTOF mutations in the ANSD family. a In a Chinese ANSD family, compound heterozygous mutations c.1273 C > T and c.4994 T > C were observed in both affected siblings (II:1 and II:3); b One heterozygous mutation c.1273 C > T was observed in the sister (II:2). The c.1273 C > T heterozygous mutation is from the father (I:1), and the other heterozygous c.4994 T > C mutation is from the mother (I:2)

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us