Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy

2017 ◽  
Vol 19 (4) ◽  
pp. e2952 ◽  
Author(s):  
Emanuela Viggiano ◽  
Esther Picillo ◽  
Manuela Ergoli ◽  
Alessandra Cirillo ◽  
Stefania Del Gaudio ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Crucial Role ◽  
Becker Muscular Dystrophy ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
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%).

scholarly journals X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 919 ◽  
Author(s):  
Viggiano ◽  
Madej-Pilarczyk ◽  
Carboni ◽  
Picillo ◽  
Ergoli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Clinical Symptoms ◽  
Fibrous Tissue ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Cardiac Conduction ◽  
Asymptomatic Carriers ◽  
Cardiac Symptoms ◽  
Female Carriers

X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.

scholarly journals Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

2002 ◽  
Vol 71 (1) ◽  
pp. 168-173 ◽  
Author(s):  
Robert M. Plenge ◽  
Roger A. Stevenson ◽  
Herbert A. Lubs ◽  
Charles E. Schwartz ◽  
Huntington F. Willard
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

scholarly journals Extremely skewed X-chromosome inactivation is increased in pre-eclampsia

2006 ◽  
Vol 121 (1) ◽  
pp. 101-105 ◽  
Author(s):  
Elif Uz ◽  
Ismail Dolen ◽  
Atakan R. Al ◽  
Tayfun Ozcelik
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

scholarly journals Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier

2019 ◽  
Vol 3 (17) ◽  
pp. 2627-2631
Author(s):  
Christian P. Bradley ◽  
Cai Chen ◽  
Karolyn A. Oetjen ◽  
Cheng Yan ◽  
Reema Panjwani ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
X Chromosome ◽  
Germline Mutation ◽  
Mutation Carrier ◽  
Lymphoblastic Leukemia ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Female Carrier ◽  
Key Points ◽  
Skewed X Chromosome Inactivation

Key Points Leukemic blasts of a female carrier of an ATRX germline mutation have persistently skewed inactivation of the X chromosome. Germline mutation in leukemia needs to be interpreted with caution because it is not always pathologic.

Skewed X-chromosome inactivation in human embryos with mosaic trisomy 16

2011 ◽  
Vol 47 (3) ◽  
pp. 354-357 ◽  
Author(s):  
E. N. Tolmacheva ◽  
A. A. Kashevarova ◽  
N. N. Sukhanova ◽  
V. N. Kharkov ◽  
I. N. Lebedev
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Human Embryos ◽  
Trisomy 16 ◽  
Skewed X Chromosome Inactivation ◽  
Mosaic Trisomy
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