Case Report of an Infant Female with X-Linked Chronic Granulomatous Disease Due to a De Novo Mutation in CYBB and Extremely Skewed X-Chromosome Inactivation (Lyonization)

2016 ◽  
Vol 137 (2) ◽  
pp. AB221
Author(s):  
Taylor Alberdi ◽  
M.R. Morrow ◽  
Jennifer W. Leiding
Keyword(s):  
Case Report ◽  
Chronic Granulomatous Disease ◽  
X Chromosome ◽  
De Novo ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
De Novo Mutation ◽  
Granulomatous Disease ◽  
Skewed X Chromosome Inactivation

Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia

2013 ◽  
Vol 33 (7) ◽  
pp. 1150-1155 ◽  
Author(s):  
Boonchai Boonyawat ◽  
Santhosh Dhanraj ◽  
Fahad al Abbas ◽  
Bozana Zlateska ◽  
Eyal Grunenbaum ◽  
...  
Keyword(s):  
X Chromosome ◽  
De Novo ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
De Novo Mutation ◽  
Wiskott Aldrich Syndrome

Higher Incidence of Autoantibodies in X-Linked Chronic Granulomatous Disease Carriers: Random X-Chromosome Inactivation may be Related to Autoimmunity

Autoimmunity ◽  
1999 ◽  
Vol 31 (4) ◽  
pp. 261-264 ◽  
Author(s):  
Jose M. Martin-Villa ◽  
Alfredo Corell ◽  
Jose T. Ramos-Amador ◽  
Jesus Ruiz-Contreras ◽  
Antonio Arnaiz-Villena
Keyword(s):  
Chronic Granulomatous Disease ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Granulomatous Disease

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.

Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature

2003 ◽  
Vol 46 (1) ◽  
pp. 11-18 ◽  
Author(s):  
Nouha Bouayed Abdelmoula ◽  
Marie-France Portnoi ◽  
Leila Keskes ◽  
Dominique Recan ◽  
Ali Bahloul ◽  
...  
Keyword(s):  
Case Report ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Review Of Literature ◽  
Inactivation Pattern ◽  
Skewed X Chromosome Inactivation

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

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