Hum Genet. 1979;53(1):37-41.

Hurler-Scheie phenotype: a report of two pairs of inbred sibs.

Kaibara N, Eguchi M, Shibata K, Takagishi K.

Abstract

Four cases from two families with dermatan sulfate mucopolysacchariduria who lack alpha-L-iduronidase in peripheral leukocytes are described. The clinical and roentgenographic features of these cases represent an intermediate phenotype between Hurler's syndrome and Scheie's syndrome, and both parents in each family are first cousins. In the presence of parental consanguinity, a phenotypic variation or a third mutant allele at the iduronidase locus seems to be a more reasonable explanation for these cases than a genetic compound.

PMID:: 119701; [PubMed - indexed for MEDLINE]

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Iduronidase

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Hurler-Scheie phenotype with parental consanguinity. Report of an additional case supporting the concept of genetic heterogeneity. [Clin Orthop Relat Res. 1983]
Hurler-Scheie phenotype with parental consanguinity. Report of an additional case supporting the concept of genetic heterogeneity.
Kaibara N, Katsuki I, Hotokebuchi T, Takagishi K, Kure T. Clin Orthop Relat Res. 1983 May; (175):233-6.
The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features. [Pediatrics. 1976]
The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features.
Stevenson RE, Howell RR, McKusick VA, Suskind R, Hanson JW, Elliott DE, Neufeld EF. Pediatrics. 1976 Jan; 57(1):111-22.
[Compound Hurler-Scheie disease in 3 siblings]. [Klin Monbl Augenheilkd. 1985]
[Compound Hurler-Scheie disease in 3 siblings].
Goldberg G, Grützner P. Klin Monbl Augenheilkd. 1985 Aug; 187(2):120-3.
Review The clinical spectrum of alpha-L-iduronidase deficiency. [Am J Med Genet. 1985]
Review The clinical spectrum of alpha-L-iduronidase deficiency.
Roubicek M, Gehler J, Spranger J. Am J Med Genet. 1985 Mar; 20(3):471-81.
Review Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. [Hum Mutat. 1995]
Review Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Hum Mutat. 1995; 6(4):288-302.

See reviews... See all...

Cited by 3 PubMed Central articles

The pathology of the feline model of mucopolysaccharidosis I. [Am J Pathol. 1983]
The pathology of the feline model of mucopolysaccharidosis I.
Haskins ME, Aguirre GD, Jezyk PF, Desnick RJ, Patterson DF. Am J Pathol. 1983 Jul; 112(1):27-36.
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI. [Genetics. 1985]
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI.
McGovern MM, Mandell N, Haskins M, Desnick RJ. Genetics. 1985 Aug; 110(4):733-49.
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities. [J Clin Invest. 1988]
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
Schuchman EH, Desnick RJ. J Clin Invest. 1988 Jan; 81(1):98-105.

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