Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
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Dong Wang
Abstract
Background: Multiple epiphyseal dysplasia (MED) is one of the common hereditary osteochondrodysplasias. Mutations in diastrophic dysplasia sulfate transporter gene (DTDST) result in recessive MED.
Objective: To investigate the possible gene mutation in a recessive MED patient.
Subjects: A boy with typical clinical features of recessive MED and his parents.
Methods: Clinical and radiological evaluations, DTDST gene sequence analysis, and sulfate uptake assay were performed on the patient and his parents.
Results: The patient showed typical symptoms of recessive MED. The radiological evaluation confirmed dysplasia in multiple epiphysis of the patient, while his parents did not show the similar clinical and radiological features. Gene sequence showed the patient was homozygous of A2092T (T689S) mutation, while his parents were both of heterozygous of the same mutation. No such mutation in DTDST gene was found in 81 normal control individuals. The patient showed reduced sulfate uptake ability in dermal fibroblast compared with his parents and normal controls.
Conclusion: The homozygous A2092T (T689S) mutation could be one of the mutations in the DTDST gene causing MED.
We are grateful to Professor Huang Chen (Department of Genetics, Medicine college of Xi’an Jiaotong University) and Dr. Yang Xudong (Department of Biochemistry and Molecular Biology, Medicine college of Xi’an Jiaotong University) for their valuable advice to this study.
References
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Articles in the same Issue
- Masthead
- Masthead
- Editorials
- Editorial
- Consensus, guidelines and reviews
- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
- Original articles
- Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
- Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
- A novel genetic mutation in a Portuguese family with GCK-MODY
- Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
- A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
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