Literature DB >> 7333028

Probable autosomal dominant infantile pyloric stenosis in a large kindred.

K Fried, S Aviv, C Nisenbaum.   

Abstract

The proposita was operated on in this hospital in 1980 for pyloric stenosis, at the age of 13 days, after vomiting had started 5 days previously, and the diagnosis had been confirmed on radiological investigation. Her older sister and two male cousins of the father had the same operations in Israel in infancy. The other nine affected individuals in the family were known to have had projectile vomiting for several months in infancy, and two of them died in infancy. They were all born in the Jewish community in Georgia, U.S.S.R. The male:female sex ratio was 2:2 for the operated cases, and 4:5 for those projectile vomiting history. There was no skipping of a generation. This family indicates that pyloric stenosis can exceptionally be inherited as a simple autosomal dominant trait.

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Year:  1981        PMID: 7333028     DOI: 10.1111/j.1399-0004.1981.tb01043.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

1.  Myenteric plexus neuropathy in infantile hypertrophic pyloric stenosis.

Authors:  R Dieler; J M Schröder
Journal:  Acta Neuropathol       Date:  1989       Impact factor: 17.088

2.  Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity.

Authors:  Francesca Capon; Ashley Reece; Rathi Ravindrarajah; Eddie Chung
Journal:  Am J Hum Genet       Date:  2006-06-07       Impact factor: 11.025

3.  Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

Authors:  Kate V Everett; Barry A Chioza; Christina Georgoula; Ashley Reece; Francesca Capon; Keith A Parker; Cathy Cord-Udy; Paul McKeigue; Sally Mitton; Agostino Pierro; Prem Puri; Hannah M Mitchison; Eddie M K Chung; R Mark Gardiner
Journal:  Am J Hum Genet       Date:  2008-02-28       Impact factor: 11.025

4.  A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

Authors:  Kate V Everett; Paris Ataliotis; Barry A Chioza; Charles Shaw-Smith; Eddie M K Chung
Journal:  Pediatr Res       Date:  2016-11-17       Impact factor: 3.756

5.  Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.

Authors:  E Chung; R Coffey; K Parker; P Tam; M E Pembrey; R M Gardiner
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

6.  Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.

Authors:  Kate V Everett; Barry A Chioza; Christina Georgoula; Ashley Reece; R Mark Gardiner; Eddie M K Chung
Journal:  Hum Genet       Date:  2009-12       Impact factor: 4.132

  6 in total

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