Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease. Issue 5 (8th February 2021)

• Record Type: Journal Article
• Authors: Cadieux‐Dion, Maxime; Hughes, Susan; Engleman, Kendra; Rush, Eric T.; Saunders, Carol
• Is Part Of: American journal of medical genetics. Volume 185:Issue 5(2021)
• Page Start: 1515
• Page End: 1518
• Publication Date: 2021-02-08
• Subjects: acrofacial dysostosis -- exome sequencing -- Nager syndrome -- SF3B4 -- spliceosome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62113
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Nager syndrome epitomizes the acrofacial dysostoses, which are characterized by craniofacial and limb defects. The craniofacial defects include midfacial retrusion, downslanting palpebral fissures, prominent nasal bridge, and micrognathia. Limb malformations typically include hypoplasia or aplasia of radial elements including the thumb. Nager syndrome is caused by haploinsufficiency of SF3B4, encoding a spliceosomal protein called SAP49. Here, we report a patient with a loss of function variant in SF3B4 without acrofacial dysostosis or limb defects, whose reason for referral was developmental and growth delay. This patient is evidence of a broader phenotypic spectrum associated with SF3B4 variants than previously appreciated.