Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

Kantaputra, Piranit Nik; Kayserili, Hülya; Güven, Yeliz; Kantaputra, Warissara; Balcı, Mehmet Cihan; Tanpaiboon, Pranoot; Uttarilli, Anusha; Dalal, Ashwin

doi:10.1007/s10545-013-9645-8

Cited by 34 publications

(51 citation statements)

References 27 publications

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“…Open bite and crossbite are explained by the presence of macroglossia and reverse swallowing. 7,9,14,19,22,24,27,30 Similar results were reported in the study by Antunes et al, 9 in which five participants in a total of twelve patients showed limitation of mouth opening. This limitation may be due to the presence of condylar defects.…”

Section: ■ Discussionsupporting

confidence: 83%

“…The accumulation of mucopolysaccharides impacts the stomatognathic system, leading to changes in oral health and to the development of the dentition of patients with this disease. 3,[7][8][9][13][14][15][17][18][19][20][21][22][23][24][25][26][27] Craniofacial features consist of coarse facial features high prominent forehead, snub nose with a depressed nasal bridge, broad nasal tip, and anteverted nostrils. 3,7-9,13-15,17-27 Thick lips with an open mouth posture are also features associated with this syndrome.…”

Section: ■ Resultsmentioning

confidence: 99%

“…3,7-9,13-15,17-27 Thick lips with an open mouth posture are also features associated with this syndrome. 3,7-9,13-15, [17][18][19][20][21][22][23][24][25][26][27] Few studies have reported the oral and dental changes in MPS patients. The reported alterations include a short and broad mandible, macroglossia, anterior open-bite, high arched palate with pronounced rugae, spaced dentition, lip hypotonia, gingival hyperplasia and enlargement of the alveolar process.…”

Section: ■ Resultsmentioning

confidence: 99%

“…Radiographic features that have been reported include short mandibular rami with abnormal condyles; reports also include delayed eruption teeth related to the presence of multiple unerupted teeth with large thickened dental follicles secondary to excessive dermatan sulfate and collagen deposition. 3,[7][8][9][13][14][15][17][18][19][20][21][22][23][24][25][26][27] Notwithstanding, to date there are no studies comparing oral features of patients with mucopolysaccharidosis with controls without the disease. The evaluation of dental conditions in patients with MPS is scarce considering that in literature only clinical cases are described.…”

Section: ■ Resultsmentioning

confidence: 99%

“…8,21,22 Our results showed a greater prevalence of macroglosia and lingual interposition in patients with mucopolysaccharidosis, which is corroborated in the literature by several authors. 7,9,[13][14][15][20][21][22][23][24][26][27][28][29] The macroglossia is due to the deposition of glycosaminoglycans (GAG) in the tongue structure that usually results in an anterior open bite. 7,9,13,15,[19][20][21][22][23][24][25][26][27][28]30,31 The higher prevalence of lingual interposition in patients with MPS may be due to the presence of macroglossia, anterior open bite and strong maxillary compression.…”

Section: ■ Discussionmentioning

confidence: 99%

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Oral manifestations in children with mucopolysaccharidosis

Ponciano¹,

Areias²

2017

Medical Express

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Section: ■ Discussionsupporting

confidence: 83%

Section: ■ Resultsmentioning

confidence: 99%

Section: ■ Resultsmentioning

confidence: 99%

Section: ■ Resultsmentioning

confidence: 99%

Section: ■ Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Oral manifestations in children with mucopolysaccharidosis

Ponciano¹,

Areias²

2017

Medical Express

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Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

Kantaputra

Kayserili

Güven

et al. 2014

American J of Med Genetics Pt A

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Mucopolysaccharidosis (MPS) type VI or Maroteaux-Lamy syndrome is a very rare autosomal recessive lysosomal storage disease, caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB). Clinical examination, biochemical studies, and molecular genetic analyses have been performed in 17 patients affected with MPS VI from 15 unrelated families from Thailand, India, and Turkey. Large ear lobule appears to be a newly recognized finding of this syndrome. Mutation analysis of the ARSB gene revealed seven missense and three frameshift mutations of which eight were novel. Novel missense mutations were p.Asp53Asn, p.Val376Glu, p.Glu390Lys, p.Pro445Leu, and p.Trp450Cys, while an Indian patient was homozygous for two novel missense mutations (p.Pro445Leu and p.Trp450Cys). Three novel frameshift mutations were p.Pro70fsX123, p.Ser403fs, and p.Thr526fs. Two previously reported mutations, p.Arg160Gln and p.Leu321Pro, were also observed in our cohort. The amino acid Arg160 appears to be the mutational hot spot for the ARSB gene. Five patients homozygous for p.Leu321Pro mutation had early onset of the disease, and haplotype analysis showed that the mutation is a founder mutation in Turkish population.

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Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

Kantaputra

Smith

Casal

et al. 2019

American J of Med Genetics Pt A

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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

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Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

Cited by 34 publications

References 27 publications

Oral manifestations in children with mucopolysaccharidosis

Oral manifestations in children with mucopolysaccharidosis

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

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