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

• Published in: BMC medical genetics Vol. 21; no. 1; p. 35
• Main Authors: Venugopal, Parvathy, Gagliardi, Lucia, Forsyth, Cecily, Feng, Jinghua, Phillips, Kerry, Babic, Milena, Poplawski, Nicola K, Rienhoff, Jr, Hugh Young, Schreiber, Andreas W, Hahn, Christopher N, Brown, Anna L, Scott, Hamish S
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 17.02.2020; BioMed Central; BMC
• Subjects: Accounting departments; Adult; Aged; Congenital Bone Marrow Failure Syndromes - complications; Congenital Bone Marrow Failure Syndromes - diagnosis; Congenital Bone Marrow Failure Syndromes - genetics; Congenital Bone Marrow Failure Syndromes - physiopathology; Congenital neutropenia; DNA sequencing; DNA-Binding Proteins - genetics; Exome - genetics; Family; Female; Genes; Genetic Diseases, Inborn - complications; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - physiopathology; Genetic disorders; Genetic screening; Genomics; Genotype & phenotype; Granulocytes; Hearing loss; Hearing Loss, Sensorineural - complications; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Hearing protection; Humans; Leukemia; Leukemia predisposition; Male; Middle Aged; Monocytosis; Mutation; Mutation - genetics; Myosin Heavy Chains - genetics; Neutropenia; Neutropenia - complications; Neutropenia - congenital; Neutropenia - diagnosis; Neutropenia - genetics; Neutropenia - physiopathology; Neutrophils; Pedigree; Phenotype; Phenotypes; Physiological aspects; Polygenic inheritance; Proteins; Retirement benefits; Transcription Factors - genetics; Whole Exome Sequencing; Australia; Congenital neutropenia; Polygenic inheritance; Hearing loss; Leukemia predisposition; Neutropenia

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. We performed whole exome sequencing to identify the causative variants. Sanger sequencing was...