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Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Am J Med Genet A. 2021 05; 185(5):1515-1518.AJ

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.

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Authors+Show Affiliations

Cadieux-Dion M
Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, Missouri, USA.
Hughes S
Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
Engleman K
Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
Rush ET
Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA. University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA.
Saunders C
Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, Missouri, USA. University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA. Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.

MeSH

Craniofacial DysostosisGenetic Predisposition to DiseaseHaploinsufficiencyHumansInfantLimb Deformities, CongenitalMaleMandibulofacial DysostosisMutationPhenotypeRNA Splicing FactorsSpliceosomes

Pub Type(s)

Case Reports

Language

eng

PubMed ID

33559401

Citation

Cadieux-Dion, Maxime, et al. "Nager Syndrome in Patient Lacking Acrofacial Dysostosis: Expanding the Phenotypic Spectrum of SF3B4-related Disease." American Journal of Medical Genetics. Part A, vol. 185, no. 5, 2021, pp. 1515-1518.
Cadieux-Dion M, Hughes S, Engleman K, et al. Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. Am J Med Genet A. 2021;185(5):1515-1518.
Cadieux-Dion, M., Hughes, S., Engleman, K., Rush, E. T., & Saunders, C. (2021). Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. American Journal of Medical Genetics. Part A, 185(5), 1515-1518. https://doi.org/10.1002/ajmg.a.62113
Cadieux-Dion M, et al. Nager Syndrome in Patient Lacking Acrofacial Dysostosis: Expanding the Phenotypic Spectrum of SF3B4-related Disease. Am J Med Genet A. 2021;185(5):1515-1518. PubMed PMID: 33559401.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. AU - Cadieux-Dion,Maxime, AU - Hughes,Susan, AU - Engleman,Kendra, AU - Rush,Eric T, AU - Saunders,Carol, Y1 - 2021/02/08/ PY - 2021/01/14/revised PY - 2020/09/28/received PY - 2021/01/15/accepted PY - 2021/2/10/pubmed PY - 2021/8/10/medline PY - 2021/2/9/entrez KW - Nager syndrome KW - SF3B4 KW - acrofacial dysostosis KW - exome sequencing KW - spliceosome SP - 1515 EP - 1518 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 185 IS - 5 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/33559401/Nager_syndrome_in_patient_lacking_acrofacial_dysostosis:_Expanding_the_phenotypic_spectrum_of_SF3B4_related_disease_ L2 - https://doi.org/10.1002/ajmg.a.62113 DB - PRIME DP - Unbound Medicine ER -