ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) (rs1057518644)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000415469 SCV000794741 likely pathogenic Mucopolysaccharidosis, MPS-III-C 2017-10-16 criteria provided, single submitter clinical testing
GENETICS INSTITUTE,National university of Colombia RCV000415469 SCV000323116 pathogenic Mucopolysaccharidosis, MPS-III-C 2016-03-01 no assertion criteria provided research As a result of genetic community visits in Boyacá, two patients with a phenotype compatible with MPS III in the village of Runta, adjacent to the city of Tunja rural area were identified. The research group Clinical Genetics at the National University of Colombia visited this place, leading to the identification of three more patients with the same presentation. In the first two cases identified, enzymatic assays for MPS III A and III B with negative results. Considering that MPS IIID is much less common, we considered MPS IIIC as a higher probability, so that the complete sequence of the gene HGSNAT, which revealed homozygous state, a new causal mutation was obtained. Mutation analysis in the remaining patients confirmed that all harboring the same mutation also in the homozygous state. All patients had coarse features that had become evident around 12 to 18 months and facial hirsutism. Hirsutism body was present in 80% of patients. Three patients had painful contractures of the large joints (hip, elbow and knee), as well as claw hand deformity. All patients had multiple disostosis and cranial hyperostosis and two patients had kyphosis. In all patients expressive language delay was presented, none of the patients becomes normal language for their chronological age, inattentiveness, echolalia and anxiety is evident.

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