Title

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.

Document Type

Article

Publication Date

5-2021

Identifier

DOI: 10.1002/ajmg.a.62113

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.

Journal Title

American journal of medical genetics. Part A

Volume

185

Issue

5

First Page

1515

Last Page

1518

Keywords

Nager syndrome; SF3B4; acrofacial dysostosis; exome sequencing; spliceosome.

Library Record

Share

COinS