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- W2969473074 abstract "Abstract Motivation One of the rare inherited diseases is the mucopolysaccharidoses disorders (MPS) associated with accumulation of glycosaminoglycan in several organs, leading to abnormalities in musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointestinal. Nowadays, an increasing number of patients with MPS are reaching adulthood and are involved in family planning due to improvements in diagnosis, multi-disciplinary care, and therapies such as enzyme replacement therapy and hematopoietic stem cell transplantation. Knowledge on skeletal deformity in MPS remains relatively uncommon and includes a few case reports. To assess more, we present a case report on musculoskeletal deformity in one subject with MPS. Case This case revealed that subject with MPS has generalized osteoporosis, Degenerative Joint Disease (DJD) of both hips, general skeletal deformity alongside normal mental status. On physical examination, disproportionate short stature, skeletal dysplasia, osteoporosis, prognathism, negative ulnar variance, angle blunting and ulnar styloid were detected. In the present research work, C.181C>T (p.Arg61Trp) variant of GALNS gene was found through whole exome sequencing and the mutation was confirmed using Sanger sequencing method, which is associated with MPS4A phenotype. Conclusions Pathogenic variant in the GALNS gene associated with hereditary Mucopolysaccharidosis IVA, (MPS4A, Morquio syndrome A) which encodes N-acetylgalactosamin-sulfate sulfatase, may be useful as a biomarker to early diagnosis and treatment." @default.
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- W2969473074 date "2019-12-01" @default.
- W2969473074 modified "2023-09-26" @default.
- W2969473074 title "An ultra-rare mutation (C.181C>T) in GALNS gene associated with Morquio syndrome: A case report" @default.
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- W2969473074 doi "https://doi.org/10.1016/j.genrep.2019.100488" @default.
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