Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

Abstract

Mucopolysaccharidosis Type VII (MPS7, also called β-glucuronidase deficiency or Sly syndrome; MIM 253220) is an extremely rare autosomal recessive lysosomal storage disease, caused by mutations in the GUSB gene. β-glucuronidase (GUSB) is a lysosomal hydrolase involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans (GAGs). Patients affected with MPS VII are not able to completely degrade glucuronic acid-containing GAGs, including chondroitin 4-sulfate, chondroitin 6-sulfate, dermatan sulfate, and heparan sulfate. The accumulation of these GAGs in lysosomes of various tissues leads to cellular and organ dysfunctions. Characteristic features of MPS VII include short stature, macrocephaly, hirsutism, coarse facies, hearing loss, cloudy cornea, short neck, valvular cardiac defects, hepatosplenomegaly, and dysostosis multiplex. Oral manifestations in patients affected with MPS VII have never been reported. Oral manifestations observed in three patients consist of wide root canal spaces, taurodontism, hyperplastic dental folli-cles, malposition of unerupted permanent molars, and failure of tooth eruption with malformed roots. The unusual skeletal features of the patients include maxillary hypoplasia, hypoplastic midface, long mandibular length, mandibular prognathism, hypoplastic and aplastic mandibular condyles, absence of the dens of the second cervical vertebra, and erosion of the cortex of the lower border of mandibles. Dogs affected with MPS VII had anterior and posterior open bite, maxillary hypoplasia, premolar crowding, and mandibular prognathism. Unlike patients with MPS VII, the dogs had

Mucopolysaccharidosis type VII presenting as neonatal cholestasis

“…Another consistent feature was short stature in these cases. Oral manifestations observed in three patients consist of wide root canal spaces, taurodontism, hyperplastic dental follicles, malposition of unerupted permanent molars, and failure of tooth eruption with malformed roots [6].…”

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

“…MPS-VII is clinically characterized by degenerative neurological symptoms, severe skeletal malformations (mostly thoracic deformity, scoliosis, and hip dysplasia), facial dysmorphism, hepatosplenomegaly, susceptibility to infections of the ear and respiratory tract, pulmonary complications and cardiac defects [665]. Our search resulted in 46 MPS-VII patients with cardiac involvement consisting of progressive CVD, ARe, AVS, AI, DAR, MVR, MVS, MI, TVR, MF, LVD, LVH, CH, early repolarization and T wave inversion and, in several cases, congestive HF [540,564,590,654,[666][667][668][669][670][671][672][673][674][675] (Table 6, Supplementary Tables S2 and S3). ERT in MPS-VII seems to stabilize some of the cardiac symptoms (although worsening cases have also been reported), while the effects on these symptoms due to HSCT are still under scrutiny in few clinical trials [676].…”

Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period

“…Two variants were identified in the GUSB gene (MIM: 611499) (see Table 2), which is associated with mucopolysaccharidosis type VII (MPS-VII) (MIM: 2532200). The c.1270C>T p.(His424Tyr) variant was not detected in the father and therefore deemed likely to have been inherited from the egg donor or arose de novo; was absent from the gnomAD population database (PM2_moderate) and had previously been reported to be a compound heterozygous state in trans with pathogenic variants in two patients with MPS-VII 2,3 (PS4_moderate; PM3_strong). It was therefore classified as likely pathogenic.…”