Skewed X Inactivation of the Normal Allele in Fully Mutated Female Carriers Determines the Levels of FMRP in Blood and the Fragile X Phenotype

2005 ◽  
Vol 9 (3) ◽  
pp. 157-162 ◽  
Author(s):  
Raquel Martínez ◽  
Victoria Bonilla-Henao ◽  
Antonio Jiménez ◽  
Miguel Lucas ◽  
Carmen Vega ◽  
...  
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Normal Allele ◽  
Skewed X Inactivation ◽  
Female Carriers

Skewed X Inactivation of the Normal Allele in Fully Mutated Female Carriers Determines the Levels of FMRP in Blood and the Fragile X Phenotype

2005 ◽  
Vol 9 (3) ◽  
pp. 157-162 ◽  
Author(s):  
Raquel Mart??nez ◽  
Victoria Bonilla-Henao ◽  
Antonio Jim??nez ◽  
Miguel Lucas ◽  
Carmen Vega ◽  
...  
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Normal Allele ◽  
Skewed X Inactivation ◽  
Female Carriers

scholarly journals Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation

1997 ◽  
Vol 82 (10) ◽  
pp. 3434-3437 ◽  
Author(s):  
Yoko Nomura ◽  
Kazumichi Onigata ◽  
Tomohisa Nagashima ◽  
Shigenori Yutani ◽  
Hiroshi Mochizuki ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
X Inactivation ◽  
Skewed X Inactivation ◽  
Female Carriers

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

1998 ◽  
Vol 80 (4) ◽  
pp. 356-361 ◽  
Author(s):  
Denilce R. Sumita ◽  
Mariz Vainzof ◽  
Simone Campiotto ◽  
Antonia M. Cerqueira ◽  
Marta C�novas ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Serum Creatine Kinase ◽  
X Inactivation ◽  
Skewed X Inactivation ◽  
Female Carriers

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome

2015 ◽  
Vol 16 (3-4) ◽  
pp. 290-292 ◽  
Author(s):  
Maria Isabel Alvarez-Mora ◽  
Laia Rodriguez-Revenga ◽  
Aina Feliu ◽  
Celia Badenas ◽  
Irene Madrigal ◽  
...  
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Ataxia Syndrome ◽  
Skewed X Inactivation

Duchenne Muscular Dystrophy in a 4-Year-Old Girl due to Heterozygous Frame Shift Deletion of the Dystrophin Gene and Skewed X-Inactivation

2012 ◽  
Vol 224 (04) ◽  
pp. 256-258 ◽  
Author(s):  
A. Schänzer ◽  
I. Rau ◽  
W. Kreß ◽  
A. Köhler ◽  
B. Neubauer ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Symptoms ◽  
Dystrophin Gene ◽  
X Inactivation ◽  
Blood Leukocytes ◽  
Dmd Gene ◽  
Diagnostic Work ◽  
Skewed X Inactivation ◽  
Female Carriers

AbstractX-linked recessive diseases affect males, whereas female carriers are generally asymptomatic.We report on a 4-year-old girl who presented with a classical phenotype of Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive type of muscular dystrophy affecting boys in early childhood.A thorough diagnostic work-up revealed that this resulted from a heterozygous out-of frame deletion in the DMD-gene in combination with an X-inactivation ratio of <10:90 in blood leukocytes and muscle.The case exemplifies that a skewed X-inactivation pattern has to be taken into account as mechanism causing clinical symptoms in female carriers of X-linked recessive disorders

scholarly journals Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

2011 ◽  
Vol 79 (2) ◽  
pp. 176-182 ◽  
Author(s):  
V Desai ◽  
A Donsante ◽  
KJ Swoboda ◽  
M Martensen ◽  
J Thompson ◽  
...  
Keyword(s):  
Menkes Disease ◽  
X Inactivation ◽  
Skewed X Inactivation ◽  
Female Carriers

Skewed X inactivation in Lesch–Nyhan disease carrier females

2017 ◽  
Vol 62 (12) ◽  
pp. 1079-1083 ◽  
Author(s):  
Rosa J Torres ◽  
Juan G Puig
Keyword(s):  
X Inactivation ◽  
Skewed X Inactivation
Sign in / Sign up

Export Citation Format

Share Document