TY - JOUR T1 - Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. AU - Zhao,Jue, AU - Yang,Liwei, Y1 - 2020/06/14/ PY - 2020/02/29/received PY - 2020/05/18/revised PY - 2020/05/19/accepted PY - 2020/6/17/pubmed PY - 2021/7/6/medline PY - 2020/6/16/entrez KW - Nager syndrome KW - SF3B4 mutation KW - Treacher collins syndrome KW - acrofacial dysostosis KW - next-generation sequencing SP - e23426 EP - e23426 JF - Journal of clinical laboratory analysis JO - J Clin Lab Anal VL - 34 IS - 9 N2 - BACKGROUND: Nager syndrome is a rare genetic syndrome characterized by craniofacial and preaxial limb anomalies. Haploinsufficiency of the SF3B4 gene has been identified as a significant reason for Nager syndrome. Treacher Collins syndrome (TCS) has similar facial features; however, the TCOF1, POLR1D, and POLR1C genes have been reported as the critical disease-causing genes. Similar phenotypes make it easy to misdiagnose. CASE REPORT: In this report, we have presented a case of one newborn with acrofacial dysostosis, who was first diagnosed with TCS. Expanded next-generation sequencing eventually detected a (c.1A>G) heterozygous mutation in the SF3B4 gene at chr1:149899651 that was confirmed by Sanger sequencing. Combined with his preaxial limb anomalies discovered after his death, a diagnosis of Nager syndrome was made. CONCLUSIONS: This report presents one patient with Nager syndrome who was initially misdiagnosed with TCS. Correct genetic testing will be beneficial to future prenatal diagnosis. SN - 1098-2825 UR - https://www.unboundmedicine.com/medline/citation/32537850/Broad_spectrum_next_generation_sequencing_based_diagnosis_of_a_case_of_Nager_syndrome_ L2 - https://doi.org/10.1002/jcla.23426 DB - PRIME DP - Unbound Medicine ER -