The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
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Xiao-Qiao Li
Abstract
Background
Cystinosis is a rare autosomal-recessive disorder caused by a defective transport of cystine across the lysosomal membrane. Previous studies have mapped cystinosis to the CTNS gene which is located on chromosome 17p13, and various CTNS mutations have been identified to correlate them with this disease.
Methods
We analyzed six patients from five unrelated families who were diagnosed with cystinosis in our hospital. We described the diagnostic procedures for all the patients and proposed alternative therapies for cystinosis patients instead of using cysteamine, an orphan drug which was commercially unavailable in China. Moreover, genetic analysis of all patients’ samples was carried out to identify novel CTNS gene mutations.
Results and conclusions
The patients in this study were followed up from 1 to more than 10 years to monitor their growth and development, which indicated that the alternative therapies we used were helpful to ameliorate the complications of the cystinosis patients without cysteamine. Furthermore, by sequencing the patients’ genome, we identified novel mutations in the CTNS gene including: c.477C > G (p.S159R), c.274C > T (p.Q92X) and c.680A > T (p.E227V); these mutations were only observed in cystinosis patients and had never been reported in any other populations, suggesting they might be specific to Chinese cystinosis patients.
Acknowledgments
The authors thank the family members of the patients involved in this study.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This study is supported by the National Key Research and Development Program of China (2016YFC0901505).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Conflict of interest: The authors declare that they have no conflict of interest.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Review
- The importance of anthropological methods in the diagnosis of rare diseases
- Original Articles
- PON1 arylesterase activity, HDL functionality and their correlation in malnourished children
- Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing
- Myocardial dysfunction in relation to serum thiamine levels in children with diabetic ketoacidosis
- Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
- Endocrine consequences of neuroblastoma treatment in children: 20 years’ experience of a single center
- Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases
- Adrenal function of extremely premature infants in the first 5 days after birth
- Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes
- The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
- Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study
- Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
- Short Communication
- Classical galactosemia patients can achieve high IQ scores
- Case Reports
- Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
- MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
- A case report and literature review of monoallelic mutation of GHR
- Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata’s disease) in a hypoglycemic child: a case report and review of the literature
