Literature DB >> 1642233

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

J T Clarke1, P J Wilson, C P Morris, J J Hopwood, R I Richards, G R Sutherland, P N Ray.   

Abstract

We report the results of studies on the characterization of the mutation associated with marked unbalanced expression of the mutant X chromosome in a karyotypically normal girl with Hunter disease (mucopolysaccharidosis type II). Southern analysis of DNA extracted from somatic cell hybrids containing only the mutant X chromosome showed deletion of the Xq27.3-q28 loci: DXS297 (VK23AC), DXS293 (VK16), FRAXA (pfxa3), DXS296 (VK21A), and the 3' end of the iduronatesulfatase (IDS) gene. The flanking loci--DXS52 (St14-1), DXS304 (U6.2), and DXS369 (RN1)--were intact. On the basis of these results, we concluded that the mutation was a simple deletion extending a maximum of 3-5 cM to the centromeric side of the IDS gene. Both Southern analysis of DNA from somatic cell hybrids, using short segments of IDS cDNA, and PCR of reverse-transcribed RNA from cultured skin fibroblasts indicated that the telomeric terminus of the deletion was localized to a region near the middle of the coding sequences of the gene.

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Year:  1992        PMID： 1642233      PMCID： PMC1682679     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  28 in total

1.  Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

Authors:  R I Richards; Y Shen; K Holman; H Kozman; V J Hyland; J C Mulley; G R Sutherland
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Fragile X genotype characterized by an unstable region of DNA.

Authors:  S Yu; M Pritchard; E Kremer; M Lynch; J Nancarrow; E Baker; K Holman; J C Mulley; S T Warren; D Schlessinger
Journal:  Science       Date:  1991-05-24       Impact factor: 47.728

3.  Do sequences in Xq27.3 play a role in X inactivation?

Authors:  M Schmidt
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

4.  Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Authors:  F Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; S T Warren; G K Suthers; P Goodfellow; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

5.  Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.

Authors:  G R Sutherland; A Gedeon; L Kornman; A Donnelly; R W Byard; J C Mulley; E Kremer; M Lynch; M Pritchard; S Yu
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

6.  Genetic mapping of new RFLPs at Xq27-q28.

Authors:  G K Suthers; I Oberlé; J Nancarrow; J C Mulley; V J Hyland; P J Wilson; J McCure; C P Morris; J J Hopwood; J L Mandel
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

7.  Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

Authors:  J T Clarke; W L Greer; P M Strasberg; R D Pearce; M A Skomorowski; P N Ray
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

8.  Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

Authors:  A Poustka; A Dietrich; G Langenstein; D Toniolo; S T Warren; H Lehrach
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

9.  Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.

Authors:  T Litjens; C P Morris; G J Gibson; K R Beckmann; J J Hopwood
Journal:  Biochem Int       Date:  1991-05

10.  Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.

Authors:  P J Wilson; G K Suthers; D F Callen; E Baker; P V Nelson; A Cooper; J E Wraith; G R Sutherland; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132
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  16 in total

1.  Heritability of X chromosome--inactivation phenotype in a large family.

Authors:  A K Naumova; R M Plenge; L M Bird; M Leppert; K Morgan; H F Willard; C Sapienza
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.

Authors:  B R Migeon
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

3.  Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

Authors:  A M Zink; E Wohlleber; H Engels; O K Rødningen; K Ravn; S Heilmann; J Rehnitz; N Katzorke; C Kraus; S Blichfeldt; P Hoffmann; H Reutter; F F Brockschmidt; M Kreiß-Nachtsheim; P H Vogt; T E Prescott; Z Tümer; J A Lee
Journal:  Mol Syndromol       Date:  2014-01-29

4.  Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Authors:  K Grønskov; H Hjalgrim; M O Bjerager; K Brøndum-Nielsen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

5.  Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

Authors:  Renzo Manara; Angelica Rampazzo; Mara Cananzi; Leonardo Salviati; Rodica Mardari; Paola Drigo; Rosella Tomanin; Nicoletta Gasparotto; Elena Priante; Maurizio Scarpa
Journal:  J Inherit Metab Dis       Date:  2010-01-06       Impact factor: 4.982

6.  X inactivation of the FMR1 fragile X mental retardation gene.

Authors:  C U Kirchgessner; S T Warren; H F Willard
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

7.  A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.

Authors:  Alessandra Zanetti; Rosella Tomanin; Angelica Rampazzo; Chiara Rigon; Nicoletta Gasparotto; Matteo Cassina; Maurizio Clementi; Maurizio Scarpa
Journal:  JIMD Rep       Date:  2014-07-25

Review 8.  Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Authors:  Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

9.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

10.  Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).

Authors:  Molly Stapleton; Francyne Kubaski; Robert W Mason; Hiromasa Yabe; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Expert Opin Orphan Drugs       Date:  2017-03-08       Impact factor: 0.694
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