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

• Main Authors: Parvathy Venugopal (Author), Lucia Gagliardi (Author), Cecily Forsyth (Author), Jinghua Feng (Author), Kerry Phillips (Author), Milena Babic (Author), Nicola K. Poplawski (Author), Hugh Young Rienhoff (Author), Andreas W. Schreiber (Author), Christopher N. Hahn (Author), Anna L. Brown (Author), Hamish S. Scott (Author)
• Format: Book
• Published: BMC, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 vari...