Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

Fig. 1

Family with inherited neutropaenia, monocytosis and hearing impairment associated with mutations in GFI1 and MYO6. Pedigree, phenotypes and mutation status are indicated as per the key provided (a). Causative heterozygous mutations in GFI1 (p.N382S/c.1145A > G) and MYO6 (p.I1176L/c.3526A > C) were identified by whole exome sequencing performed on III-1 and IV-1. Sanger sequencing on available samples from consenting individuals was used for segregation analysis and confirmation of variants in individuals denoted by ‘+’ and ‘#’, respectively (b)

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us