Genetic diagnosis of spondyloenchondrodysplasia with immune dysregulation:a case report and literature review
10.3969/j.issn.1000-3606.2016.08.006
- VernacularTitle:椎体软骨发育不良伴免疫调节异常1例基因诊断及文献复习
- Author:
Chen DONG
;
Bijun SUN
;
Lin YANG
;
Bingbing WU
;
Wenhao ZHOU
;
Huijun WANG
- Publication Type:Journal Article
- Keywords:
spondyloenchondrodysplasia with immune dysregulation;
whole-exome sequencing;
gene diagnosis;
tartrate resistant acid phosphatase 5 gene
- From:
Journal of Clinical Pediatrics
2016;34(8):584-588
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and laboratory diagnosis in a rare case with dwarifsm and multisystem abnormalities. Methods Whole-exome sequencing was performed and data was processed using high-throughput data analysis pipeline. Genetic test result is veriifed by Sanger sequencing. Results This is a 14-year-old boy with short stature (the height is 132 cm) and autoimmune hemolytic anemia. He was treated with long-term oral prednisone. Head CT from other hospital found multiple calciifcations on both sides of the basal ganglia, two sides of the frontal lobe, and the left side of parietal lobe. Lateral spinal X-ray photography showed lfat in thoracolumbar vertebral body. Valgus was surgically corrected. He also has facial pigmentation spot and onychomycosis. Whole-exome sequencing combined with Sanger sequencing identiifed a known homozygous pathogenic mutation in ACP 5 genes (c. 643 G>A, p.G 215 R). Identiifcation of such a mutation results in the diagnosis of spondylo enchondrody splasia with immune dysregulation (SPENCDI). Conclusions Whole-exome sequencing is one of the effective methods for detection of rare disease, the SPENCDI case reported here is a good example of it.
