Literature DB >> 2541064

Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

O Zuffardi1, A Caiulo, P Maraschio, R Tupler, E Bianchi, P Amisano, G Beluffi, R Moratti, G Liguri.   

Abstract

Normal levels of adenylate kinase (AK-1) and of alpha 1-acid glycoprotein (ORM1) were found in a girl with a deletion 9q32-qter secondary to a maternal translocation (4q35; 9q32), thus excluding these loci from the deleted region. These results, and comparison with other informative data, map the locus for AK-1 to 9q32 and that for ORM1 to region 9q31-q32. The girl has several signs of the Goltz syndrome (Focal dermal hypoplasia), which is listed in the McKusick catalog (no. 30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked.

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Year:  1989        PMID： 2541064     DOI： 10.1007/bf00288264

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


  15 in total

1.  Partial trisomy 4q in two unrelated cases.

Authors:  M Andrle; A Erlach; A Rett
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

2.  Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities.

Authors:  M S Newton; C Cunningham; P A Jacobs; W H Price; I A Fraser
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

3.  Data on the incidence, segregation and linkage relations of the adenylate kinase (AK) polymorphism.

Authors:  S Rapley; E B Robson; H Harris; S M Smith
Journal:  Ann Hum Genet       Date:  1968-01       Impact factor: 1.670

4.  Assignment of ABO locus to 9q31.3----qter by study of a family in which an intrachromosomal shift involving chromosome 9 is segregating.

Authors:  K Narahara; Y Takahashi; K Kikkawa; Y Wakita; S Kimura; H Kimoto
Journal:  Jinrui Idengaku Zasshi       Date:  1986-09

5.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Focal dermal hypoplasia syndrome. Case report and literature review.

Authors:  E H Hall; G T Terezhalmy
Journal:  J Am Acad Dermatol       Date:  1983-09       Impact factor: 11.527

7.  Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1.

Authors:  J F Mattei; M G Mattei; J P Ardissone; H Taramasco; F Giraud
Journal:  Clin Genet       Date:  1980-02       Impact factor: 4.438

8.  Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.

Authors:  M A Ferguson-Smith; D A Aitken; C Turleau; J de Grouchy
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

9.  An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

Authors:  L Wisniewski; G Purdy; T Hassold; C Wilson; K Bentley; E Hackel; J V Higgins
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

10.  Inverted tandem ("mirror") duplications in human chromosomes: -nv dup 8p, 4q, 22q.

Authors:  K M Taylor; U Francke; M G Brown; D L George; M Kaufhold
Journal:  Am J Med Genet       Date:  1977
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  6 in total

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Authors:  I Yuasa; K Suenaga; Y Saneshige; N Tamaki; K Ito; K Okada
Journal:  Int J Legal Med       Date:  1991       Impact factor: 2.686

2.  Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

Authors:  G M Ghiggeri; G Caridi; P Altieri; A Pezzolo; G Gimelli; O Zuffardi
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  Mapping of the human COL5A1 gene to chromosome 9q34.3.

Authors:  G Caridi; A Pezzolo; R Bertelli; G Gimelli; A Di Donato; G Candiano; G M Ghiggeri
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

4.  Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

Authors:  D J Kwiatkowski; T G Nygaard; D E Schuback; S Perman; J M Trugman; S B Bressman; R E Burke; M F Brin; L Ozelius; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

5.  Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

Authors:  D J Kwiatkowski; L Ozelius; P L Kramer; S Perman; D E Schuback; J F Gusella; S Fahn; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

6.  Lung disease recalling paraseptal emphysema in a patient with Goltz syndrome.

Authors:  Rosaria Cortese; Salvatore Savasta; Silvia Di Stasi; Tiziana Boggini; Chiara Trabatti; Roberto Dore; Giulia Maria Stella
Journal:  Multidiscip Respir Med       Date:  2016-09-13
  6 in total

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