Literature DB >> 2837087

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.

K E Davies1, M N Patterson, S J Kenwrick, M V Bell, H R Sloan, J A Westman, L J Elsas, J Mahan.   

Abstract

We have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following order is proposed: Xpter - L1 - AHC - GK - DMD - Xcen. One of the boys with DMD, GK, and AHC is shown by pulsed-field-gel electrophoresis to have a deletion which has a proximal endpoint at least 500 kb distal from the pERT87 (DXS164) locus.

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Year:  1988        PMID： 2837087     DOI： 10.1002/ajmg.1320290313

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Mutations and phenotype in isolated glycerol kinase deficiency.

Authors:  A P Walker; F Muscatelli; A N Stafford; J Chelly; N Dahl; H K Blomquist; J Delanghe; P J Willems; B Steinmann; A P Monaco
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.

Authors:  D Gaudet; S Arsenault; L Pérusse; M C Vohl; J St-Pierre; J Bergeron; J P Després; K Dewar; M J Daly; T Hudson; J D Rioux
Journal:  Am J Hum Genet       Date:  2000-03-27       Impact factor: 11.025

3.  Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

Authors:  D A Pillers; J A Towbin; J S Chamberlain; D Wu; J Ranier; B R Powell; E R McCabe
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

Review 4.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

5.  Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.

Authors:  J A Towbin; D R Wu; J Chamberlain; P D Larsen; W K Seltzer; E R McCabe
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

6.  Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.

Authors:  E R McCabe; J A Towbin; G van den Engh; B J Trask
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

7.  Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

Authors:  M Stuhrmann; H Heilbronner; A Reis; R D Wegner; P Fischer; J Schmidtke
Journal:  Hum Genet       Date:  1991-02       Impact factor: 4.132
  7 in total

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