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Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.
J Clin Lab Anal. 2020 Sep; 34(9):e23426.JC

Abstract

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.

Authors+Show Affiliations

Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32537850

Citation

Zhao, Jue, and Liwei Yang. "Broad-spectrum Next-generation Sequencing-based Diagnosis of a Case of Nager Syndrome." Journal of Clinical Laboratory Analysis, vol. 34, no. 9, 2020, pp. e23426.
Zhao J, Yang L. Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. J Clin Lab Anal. 2020;34(9):e23426.
Zhao, J., & Yang, L. (2020). Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. Journal of Clinical Laboratory Analysis, 34(9), e23426. https://doi.org/10.1002/jcla.23426
Zhao J, Yang L. Broad-spectrum Next-generation Sequencing-based Diagnosis of a Case of Nager Syndrome. J Clin Lab Anal. 2020;34(9):e23426. PubMed PMID: 32537850.
* Article titles in AMA citation format should be in sentence-case
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 -