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Article

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

BMC medical genetics - 17 Feb 2020

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 excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32066420
DOI: 10.1186/s12881-020-0971-z
PMCID: PMC7026993

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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