Literature DB >> 140775

Mild and severe Hunter syndrome (MPS II) within the same sibships.

S Yatziv, R P Erickson, C J Epstein.   

Abstract

X-linked Hunter syndrome (MPS II) is presently thought to exist in two clinically and genetically distinct forms, mild and severe, which are biochemically indistinguishable. However, two sibships have been studied in which both mildy and severely affected children are present. Therefore, genetic counseling for families with MPS II should be reconsidered to take into account the possibility of heterogeneity within a family in terms of the degree of psychomotor retardation and potential longevity.

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Year:  1977        PMID: 140775     DOI: 10.1111/j.1399-0004.1977.tb01323.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  12 in total

1.  Hunter syndrome: prenatal diagnosis in maternal serum.

Authors:  J Zlotogora; G Bach
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

2.  A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.

Authors:  Xiao-Yan Li; Xiu-Yu Shi; Jun Ju; Xiao-Hong Hu; Xiao-Fan Yang; Li-Ping Zou
Journal:  World J Pediatr       Date:  2012-05-23       Impact factor: 2.764

3.  Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.

Authors:  Johanna Galvis; Jannet González; Alfredo Uribe; Harvy Velasco
Journal:  JIMD Rep       Date:  2015-02-15

4.  A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity.

Authors:  I D Young; P S Harper; I M Archer; R G Newcombe
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

5.  Biliary disease in metachromatic leukodystrophy.

Authors:  L Heier; A Daneman; J A Lowden; E Cutz; S Craw; D J Martin
Journal:  Pediatr Radiol       Date:  1983

6.  Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.

Authors:  J Spranger; M Cantz; J Gehler; I Liebaers; W Theiss
Journal:  Eur J Pediatr       Date:  1978-08-17       Impact factor: 3.183

7.  Hunter syndrome presenting as macrocephaly and hydrocephalus.

Authors:  S Yatziv; C J Epstein
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

8.  Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.

Authors:  Huiwen Zhang; Jing Li; Xinshun Zhang; Yu Wang; Wenjuan Qiu; Jun Ye; Lianshu Han; Xiaolan Gao; Xuefan Gu
Journal:  PLoS One       Date:  2011-08-04       Impact factor: 3.240

9.  A rare case of mucopolysaccharidosis: Hunter syndrome.

Authors:  Prathima Gajula; Karthikeyan Ramalingam; Dinesh Bhadrashetty
Journal:  J Nat Sci Biol Med       Date:  2012-01

10.  Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Authors:  Can Ficicioglu; Roberto Giugliani; Paul Harmatz; Nancy J Mendelsohn; Virginie Jego; Rossella Parini
Journal:  Am J Med Genet A       Date:  2017-12-06       Impact factor: 2.802

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