Literature DB >> 17091258

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

Sibylle Jakubiczka1, Thomas Bettecken, Klaus Mohnike, Reinhard Schneppenheim, Markus Stumm, Holger Tönnies, Marianne Volleth, Peter Wieacker.   

Abstract

A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.

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Year:  2006        PMID： 17091258     DOI： 10.1007/s00431-006-0303-0

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  4 in total

1.  Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.

Authors:  C Climent; M A García-Pérez; P Sanjurjo; J I Ruiz-Sanz; M A Vilaseca; M Pineda; J Campistol; V Rubio
Journal:  Hum Mutat       Date:  1999-10       Impact factor: 4.878

2.  X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

Authors:  T Yorifuji; J Muroi; A Uematsu; K Tanaka; K Kiwaki; F Endo; I Matsuda; H Nagasaka; K Furusho
Journal:  Clin Genet       Date:  1998-10       Impact factor: 4.438

3.  The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

Authors:  M Tuchman; H Morizono; B S Rajagopal; R J Plante; N M Allewell
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

4.  Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Authors:  R C Allen; H Y Zoghbi; A B Moseley; H M Rosenblatt; J W Belmont
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
  4 in total
  1 in total

Review 1.  Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Authors:  Ljubica Caldovic; Iman Abdikarim; Sahas Narain; Mendel Tuchman; Hiroki Morizono
Journal:  J Genet Genomics       Date:  2015-05-19       Impact factor: 4.275
  1 in total

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