Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/124748
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Type: Journal article
Title: Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
Author: Venugopal, P.
Gagliardi, L.
Forsyth, C.
Feng, J.
Phillips, K.
Babic, M.
Poplawski, N.K.
Rienhoff, H.Y.
Schreiber, A.W.
Hahn, C.N.
Brown, A.L.
Scott, H.S.
Citation: BMC Medical Genetics, 2020; 21(1):35-1-35-5
Publisher: Springer Nature
Issue Date: 2020
ISSN: 1471-2350
1471-2350
Statement of
Responsibility: 
Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff Jr, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, and Hamish S. Scott
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.
Keywords: Neutropenia; congenital neutropenia; leukemia predisposition; polygenic inheritance; hearing loss
Rights: © The Author(s). 2020 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
RMID: 1000014726
DOI: 10.1186/s12881-020-0971-z
Grant ID: http://purl.org/au-research/grants/nhmrc/1024215
http://purl.org/au-research/grants/nhmrc/1023059
Appears in Collections:Medicine publications

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