Literature DB >> 9541113

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

M L Carey1, T B Friedman, J H Asher, J W Innis.   

Abstract

A four generation family (UoM1) was ascertained with Waardenburg syndrome type 1 (WS1). The proband exhibited both WS1 and septo-optic dysplasia. A G to C transversion was identified in PAX3 exon 7 in four subjects affected with WS1 in this family including the proband. This glutamine to histidine missense mutation at position 391 may also affect splicing. There are over 50 mutations characterised in PAX3 in WS1 patients; however, this is the first example of a WS1 mutation in exon 7 of PAX3.

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Year:  1998        PMID： 9541113      PMCID： PMC1051252          DOI： 10.1136/jmg.35.3.248

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  25 in total

1.  The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.

Authors:  M Krawczak; J Reiss; D N Cooper
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  Median craioencephalic dysraphias and olfactogenital dysplasia.

Authors:  G DE MORSIER
Journal:  World Neurol       Date:  1962-06

3.  A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

Authors:  M Vidaud; R Gattoni; J Stevenin; D Vidaud; S Amselem; J Chibani; J Rosa; M Goossens
Journal:  Proc Natl Acad Sci U S A       Date:  1989-02       Impact factor: 11.205

4.  RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.

Authors:  M B Shapiro; P Senapathy
Journal:  Nucleic Acids Res       Date:  1987-09-11       Impact factor: 16.971

5.  Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Authors:  J H Asher; R Morell; T B Friedman
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

6.  Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

Authors:  C Foy; V Newton; D Wellesley; R Harris; A P Read
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

7.  Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

Authors:  M Tassabehji; A P Read; V E Newton; R Harris; R Balling; P Gruss; T Strachan
Journal:  Nature       Date:  1992-02-13       Impact factor: 49.962

8.  An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

Authors:  C T Baldwin; C F Hoth; J A Amos; E O da-Silva; A Milunsky
Journal:  Nature       Date:  1992-02-13       Impact factor: 49.962

9.  Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Authors:  C F Hoth; A Milunsky; N Lipsky; R Sheffer; S K Clarren; C T Baldwin
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

10.  Septo-optic dysplasia.

Authors:  C G Brook; M D Sanders; R D Hoare
Journal:  Br Med J       Date:  1972-09-30
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  1 in total

1.  A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.

Authors:  Yu Yoshida; Rieko Doi; Kaori Adachi; Eiji Nanba; Isamu Kodani; Kazuo Ryoke
Journal:  Hum Genome Var       Date:  2016-03-03
  1 in total

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