Deletion Proximal to DXS68 Locus (L1 Probe Site) in a Boy with Duchenne Muscular Dystrophy, Glycerol Kinase Deficiency, and Adrenal Hypoplasia

Overview

Journal Hum Genet

Specialty Genetics

Date 1988 Mar 1

PMID 2894344

Citations 8

Authors

J Chelly

F Marlhens

B Dutrillaux

G J van Ommen

M Lambert

B Haioun

G Boissinot

M Fardeau

J C Kaplan

Affiliations

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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.

Citing Articles

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

Rathnasiri A, Senarathne U, Arunath V, Hoole T, Kumarasiri I, Muthukumarana O BMC Endocr Disord. 2021; 21(1):214.

PMID: 34689766 PMC: 8543963. DOI: 10.1186/s12902-021-00876-6.

Isolated and contiguous glycerol kinase gene disorders: a review.

Sjarif D, Ploos van Amstel J, Duran M, Beemer F, Poll-The B J Inherit Metab Dis. 2000; 23(6):529-47.

PMID: 11032329 DOI: 10.1023/a:1005660826652.

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

Asghar M, Nevin N, Beattie E, McManus D, Roberts G, Phillips J J Inherit Metab Dis. 1999; 22(8):933-5.

PMID: 10604146 DOI: 10.1023/a:1005647608983.

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

Pernelle J, Chafey P, Chelly J, Wahrmann J, Kaplan J, Tome F Hum Genet. 1988; 78(3):285.

PMID: 3346018 DOI: 10.1007/BF00291678.

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

Marlhens F, Chelly J, Kaplan J, Lefrancois D, Harpey J, Dutrillaux B Hum Genet. 1987; 77(4):379-83.

PMID: 2891606 DOI: 10.1007/BF00291430.

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