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- Title
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
- Authors
Venugopal, Parvathy; Gagliardi, Lucia; Forsyth, Cecily; Feng, Jinghua; Phillips, Kerry; Babic, Milena; Poplawski, Nicola K.; Rienhoff, Hugh Young; Schreiber, Andreas W.; Hahn, Christopher N.; Brown, Anna L.; Scott, Hamish S.
- Abstract
Background: 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. Methods: We performed whole exome sequencing to identify the causative variants. Sanger sequencing was used to perform segregation analyses on remaining family members. Results: 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. Conclusions: We present a case illustrating the benefits of a broad screening approach that allows identification of oligogenic determinants of complex human phenotypes which may have been missed if the screening was limited to a targeted gene panel with the assumption of a syndromic disorder. This is important for correct genetic diagnosis of families and disentangling the range and severity of phenotypes associated with high impact variants.
- Subjects
SENSORINEURAL hearing loss; EXOMES; NEUTROPENIA; HUMAN phenotype; HUMAN chromosome abnormality diagnosis; DISEASES
- Publication
BMC Medical Genetics, 2020, Vol 21, Issue 1, p1
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/s12881-020-0971-z