Genomics

Dataset Information

0

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


ABSTRACT: We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. We performed whole exome sequencing to identify the causative variants. We identified and classified a pathogenic GFI1 variant and a likely pathogenic variant in MYO6 which together explain the complex phenotypes seen in this family.

PROVIDER: EGAS00001004176 | EGA |

REPOSITORIES: EGA

Similar Datasets

| 2368091 | ecrin-mdr-crc
| S-EPMC7026993 | biostudies-literature
2022-12-31 | GSE221945 | GEO
| PRJNA659398 | ENA
2017-03-08 | GSE84940 | GEO
| EGAS00001003072 | EGA
2023-07-26 | PXD040206 | Pride
2017-05-22 | GSE86349 | GEO
2021-04-15 | GSE148972 | GEO
| PRJEB53404 | ENA