Prenatal Exclusion of Ornithine Transcarbamylase Deficiency by Direct Gene Analysis

Old, John; Purvis‐Smith, Stuart; Wilcken, Bridget; Pearson, P. L.; Williamson, Robert; Briand, Pascale; Howard, N.; Hammond, Jeremy; Cathelineau, L; Davies, Kay E.

doi:10.1016/s0140-6736(85)91966-x

Cited by 51 publications

(16 citation statements)

References 5 publications

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“…Particularly important is the regional localization of DXS84 which is closely adjacent to the DMD locus Francke et al 1985). A similar order of loci has been obtained using different interstitial deletions and a series of somatic cell hybrids (Ingle et al 1985;Old et al 1985;Davies et al 1985b; see congenital adrenal hypoplasia). Although these studies have localized DXS84 to within Xp21, Boyd et al (HGM8), using a single translocation chromosome, have localized DXS84 to Xpll.4.…”

Section: New Gene and Pseudogene Assignmentsmentioning

confidence: 58%

See 1 more Smart Citation

Report of the committee on the genetic constitution of the X and Y chromosomes

Goodfellow¹,

Davies²,

Ropers³

1985

Cytogenet Genome Res

232

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Section: New Gene and Pseudogene Assignmentsmentioning

confidence: 58%

“…Assuming that the male studied by Old et al (1985) and Hammond et a l . (1985) was afflicted with Duchenne muscular dystrophy then the following loci order can be proposed Xpter-DXS9-DXS67-(GK,AHC)-DMD-DXS84-DX148-0TC-DXS7-cen.…”

Section: New Gene and Pseudogene Assignmentsmentioning

confidence: 99%

Report of the committee on the genetic constitution of the X and Y chromosomes

Goodfellow¹,

Davies²,

Ropers³

1985

Cytogenet Genome Res

232

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“…1980;Bart ley et al, 1982;Petrykowski et al, 1982;Renier et al, 1983;Franeke. 1984;Old et al. 1985;Patil et al.…”

Section: Discussionmentioning

confidence: 99%

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

Gal

Wieringa

Smeets

et al. 1986

Cytogenet Genome Res

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Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequences on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.

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“…The association of Duchenne muscular dystrophy (DMD),' glycerol kinase deficiency (GKD), and congenital adrenal hypoplasia (AHC) is recognized as a microdeletion syndrome involving contiguous loci on the short arm of the X chromosome in the Xp21 region (1)(2)(3)(4)(5). Patients with this complex phenotype may have classical DMD or a milder dystrophic myopathy as seen in the original two brothers described with this disorder (6,7), the eldest of whom is the subject of these investigations.…”

Section: Introductionmentioning

confidence: 99%

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

McCabe¹,

Towbin²,

Chamberlain³

et al. 1989

J. Clin. Invest.

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Genomic DNA from a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia was investigated using cDNA probes for the Duchenne muscular dystrophy (DMD) locus. Genomic probes had not detected a deletion in this patient. Southern analysis of Hind III-digested genomic DNA from this patient identified a deletion when the three distal Hinc II DMD cDNA fragments were used as probes. The deletion began in the genomic region corresponding to the 1.05-kb Hinc II cDNA fragment and extended through the 3' end of the DMD gene. This represents a centromeric breakpoint that corresponds to a position -10.2-10.6 kb from the 5' end of the 14-kb DMD cDNA. These investigations demonstrate the value of the DMD cDNA probes for improved diagnoses in patients with molecular lesions involving the DMD locus. Furthermore, this novel deletion involving the coding portion of the 3' end of the DMD gene assists in the ordering of exons in this region and will provide insight into the functional role of the carboxy terminus of the DMD gene product, dystrophin.

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Prenatal Exclusion of Ornithine Transcarbamylase Deficiency by Direct Gene Analysis

Cited by 51 publications

References 5 publications

Report of the committee on the genetic constitution of the X and Y chromosomes

Report of the committee on the genetic constitution of the X and Y chromosomes

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

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