Literature DB >> 2894344

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

J Chelly1, F Marlhens, B Dutrillaux, G J Van Ommen, M Lambert, B Haioun, G Boissinot, M Fardeau, J C Kaplan.   

Abstract

We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (AHC), and mental retardation. Cytogenetic analysis of prometaphasic chromosomes revealed an interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3. His phenotypically normal mother was heterozygous for this deletion. DNA probe analysis on Southern blots showed that the deletion affected the following probe sites: 754, pERT 84, 21A, XJ2.3, pERT 87, JBir, and J66-H1, whereas L1, C7, and CX5.4 probes gave a normal signal. Pulse field gel electrophoresis after SfiI digestion did not show abnormal fragments with L1. These data are consistent with a deletion of about 4 megabases and indicate that the GK and AHC loci are proximal to L1 and distal to J66-H1.

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Year:  1988        PMID： 2894344     DOI： 10.1007/bf00291665

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  26 in total

1.  Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.

Authors:  B Wieringa; T Hustinx; J Scheres; W Renier; B ter Haar
Journal:  Clin Genet       Date:  1985-05       Impact factor: 4.438

2.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

3.  Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

Authors:  J A Bartley; D K Miller; J T Hayford; E R McCabe
Journal:  Lancet       Date:  1982-10-02       Impact factor: 79.321

4.  Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.

Authors:  M H Hofker; G J van Ommen; E Bakker; M Burmeister; P L Pearson
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

5.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

6.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Authors:  P N Ray; B Belfall; C Duff; C Logan; V Kean; M W Thompson; J E Sylvester; J L Gorski; R D Schmickel; R G Worton
Journal:  Nature       Date:  1985 Dec 19-1986 Jan 1       Impact factor: 49.962

7.  Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

Authors:  J A Bartley; S Patil; S Davenport; D Goldstein; J Pickens
Journal:  J Pediatr       Date:  1986-02       Impact factor: 4.406

8.  Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Authors:  U Francke; J F Harper; B T Darras; J M Cowan; E R McCabe; A Kohlschütter; W K Seltzer; F Saito; J Goto; J P Harpey
Journal:  Am J Hum Genet       Date:  1987-03       Impact factor: 11.025

9.  Familial hyperglycerolemia.

Authors:  C I Rose; D S Haines
Journal:  J Clin Invest       Date:  1978-01       Impact factor: 14.808

10.  A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.

Authors:  G J van Ommen; J M Verkerk; M H Hofker; A P Monaco; L M Kunkel; P Ray; R Worton; B Wieringa; E Bakker; P L Pearson
Journal:  Cell       Date:  1986-11-21       Impact factor: 41.582
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  8 in total

1.  Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci.

Authors:  M Asghar; N C Nevin; E D Beattie; D McManus; G M Roberts; J A Phillips
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

2.  Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

Authors:  D Stambolian; R A Lewis; K Buetow; A Bond; R Nussbaum
Journal:  Am J Hum Genet       Date:  1990-07       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

4.  Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.

Authors:  J J Pernelle; P Chafey; J Chelly; J P Wahrmann; J C Kaplan; F Tomé; M Fardeau
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

Review 5.  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

6.  Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

Authors:  J Chelly; H Gilgenkrantz; J P Hugnot; G Hamard; M Lambert; D Récan; S Akli; M Cometto; A Kahn; J C Kaplan
Journal:  J Clin Invest       Date:  1991-10       Impact factor: 14.808

7.  Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.

Authors:  F Marlhens; J Chelly; J C Kaplan; D Lefrancois; J P Harpey; B Dutrillaux
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132

8.  A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.

Authors:  Asanka Rathnasiri; Udara Senarathne; Visvalingam Arunath; Thabitha Hoole; Ishara Kumarasiri; Oshanie Muthukumarana; Eresha Jasinge; Sachith Mettananda
Journal:  BMC Endocr Disord       Date:  2021-10-24       Impact factor: 2.763
  8 in total

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