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Title: Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
Authors: Forsyth, Cecily J ;Venugopal, P.;Gagliardi, L.;Feng, J.;Phillips, K.;Babic, M.;Poplawski, N.K.;Rienhoff, H.Y.,Jr.;Schreiber, A.W.;Hahn, C.N.;Brown, A.L.;Scott, H.S.
Affliation: Central Coast Local Health District
Issue Date: Feb-2020
Source: 21(1):35
Journal title: BMC Medical Genetics
Department: Haematology
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.
DOI: 10.1186/s12881-020-0971-z
ISSN: 1471-2350
Publicaton type: Journal Article
Keywords: Genetic Diseases
Study or Trial: Case Series and Case Reports
Appears in Collections:Haematology

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