Clinical analysis of a patient of Short rib-polydactyly syndrome type 6 with long-term misdiagnosis
10.3760/cma.j.cn511374-20250714-00426
- VernacularTitle:长期误诊的短肋胸廓发育不良6型患者1例的临床分析
- Author:
Chao ZHANG
1
;
Peiyao WANG
1
;
Ziyan CEN
1
;
Ting ZHANG
1
;
Xinwen HUANG
1
Author Information
1. 浙江大学医学院附属儿童医院遗传与代谢科 国家儿童健康与疾病临床医学研究中心 国家儿童区域医疗中心，杭州 310052
- Publication Type:Journal Article
- Keywords:
Short rib-thoracic dysplasia type 6;
NEK1 gene;
Ciliopathy;
Skeletal dysplasia;
Next-generation sequencing
- From:
Chinese Journal of Medical Genetics
2025;42(9):1126-1131
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics of a patient with Short rib-polydactyly syndrome type 6 (SRTD6) with long-term misdiagnosis, and improve its clinical recognition by reviewing the relevant literature.Methods:A patient presented at the Children′s Hospital Affiliated to Zhejiang University School of Medicine on August 19, 2024 for the discovery of liver dysfunction for 13 years and vision loss for 9 years was selected as the study subject. Her medical history, clinical data, laboratory findings and results of imaging examination were collected. High-throughput sequencing was carried out, and candidate variants were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Hospital (Ethics No.: 2021-IRB-292).Results:The patient had long-term unexplained liver dysfunction, vision loss, and growth delay. Blood acylcarnitine and urinary organic acid analysis have failed to found any abnormality. Previous genetic testing revealed a homozygous c. 203A>C (p.Glu68Ala) missense variant in the ETFDH gene, leading to a misdiagnosis of various acyl-CoA dehydrogenase deficiencies. However, treatment with high-dose vitamin B2 showed a poor effect. Physical examination revealed small hands, short and stubby fingers, and a narrow chest. Medical imaging showed shortened bilateral ribs, a narrowed chest, and short, thick metacarpals. High-throughput sequencing has detected a pathogenic homozygous c. 1957C>T (p.R653*) nonsense variant in the NEK1 gene, confirming the diagnosis of SRTD6. Conclusion:SRTD6 is characterized by rib and sternum dysplasia as the primary skeletal deformities, which is often accompanied by multi-organ impairment. Genetic testing can facilitate the precise diagnosis.
