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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.||URI:||https://elibrary.cclhd.health.nsw.gov.au/cclhdjspui/handle/1/1756||DOI:||10.1186/s12881-020-0971-z||Pubmed:||https://www.ncbi.nlm.nih.gov/pubmed/32066420||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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