Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
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چکیده
منابع مشابه
Hypocalcitonemia in Handigodu Disease: a spondylo epi (meta) physeal dysplasia.
Handigodu Disease (HD) is a disorder of the osteoarticular system which is highly prevalent in several villages of two districts viz, Shimoga and Chikmaglur of the state of Karnataka, southern India. The scientific name of the disease is Spondylo-epi-(meta) physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome. The same has been listed in the International Classification of Skeletal...
متن کاملPeptide Bound Hypohydroxyprolinuria in Handigodu Disease: A Familial Syndrome of Spondylo Epi(meta)physeal Dysplasia
Handigodu Disease (HD) is disorder of the osteoarticular system prevalent in few villages of two districts of the state Karnataka in southern India. 24 hrs urinary excretions of proline (Pro) and 4-hydroxyproline (Hyp) were analyzed by HPLC. Decreased peptide bound Hyp excretions (mumole/24 hrs) were found in patient group when compared with controls (Nonaffected; 113.02 +/- 67.96, Type-I; 36.2...
متن کاملEXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was res...
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چکیده ندارد.
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2017
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2017.38