Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

2005 ◽  
Vol 138A (1) ◽  
pp. 18-20 ◽  
Author(s):  
Takahito Wada ◽  
Hideo Sugie ◽  
Yoshimitsu Fukushima ◽  
Shinji Saitoh
Keyword(s):  
Mental Retardation ◽  
X Inactivation ◽  
Female Carrier ◽  
Skewed X Inactivation ◽  
Inactivation Study ◽  
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 Martínez ◽  
Victoria Bonilla-Henao ◽  
Antonio Jiménez ◽  
Miguel Lucas ◽  
Carmen Vega ◽  
...  
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Normal Allele ◽  
Skewed X Inactivation ◽  
Female Carriers

scholarly journals Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome (Am J Med Genet 131A: 209-212)

2005 ◽  
Vol 134A (3) ◽  
pp. 347-347
Author(s):  
Frank J. Probst ◽  
Peter Hedera ◽  
Anthony M. Sclafani ◽  
Maria Grazia Pomponi ◽  
Giovanni Neri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
X Inactivation ◽  
Skewed X Inactivation

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

2004 ◽  
Vol 131A (2) ◽  
pp. 209-212 ◽  
Author(s):  
Frank J. Probst ◽  
Peter Hedera ◽  
Anthony M. Sclafani ◽  
Maria Grazia Pomponi ◽  
Giovanni Neri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
X Inactivation ◽  
Skewed X Inactivation

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 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 Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease

2019 ◽  
Author(s):  
Itzel López-Hernández ◽  
Caroline Deswarte ◽  
Miguel Ángel Alcantara-Ortigoza ◽  
María del Mar Saez-de-Ocariz ◽  
Marco Antonio Yamazaki-Nakashimada ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
De Novo ◽  
X Inactivation ◽  
De Novo Mutation ◽  
Female Carrier ◽  
Reactive Oxygen Metabolites ◽  
Granulomatous Disease ◽  
Oxygen Metabolites ◽  
Skewed X Inactivation ◽  
Skewed X Chromosome Inactivation

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; however, there are scarce reports of adult females diagnosed with X-linked-CGD attributed to an extremely skewed X-chromosome inactivation. This condition is characterized by severe and recurrent infections that usually develop after childhood. In clinical practice, physicians who usually confront these patients should suspect this entity and differentiate it from a secondary immunodeficiency. Here, we report a 38-year-old Mexican female with juvenile-onset X linked-CGD, caused by a de novo mutation and extremely skewed X-inactivation, whose clinical features were similar to those in patients with classic X-linked-CDG.

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