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 Copy Number Changes on the X Chromosome in Women with and without Highly Skewed X-Chromosome Inactivation

2012 ◽  
Vol 136 (4) ◽  
pp. 264-269 ◽  
Author(s):  
V. Jobanputra ◽  
B. Levy ◽  
A. Kinney ◽  
S. Brown ◽  
M. Shirazi ◽  
...  
Keyword(s):  
X Chromosome ◽  
Copy Number ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Copy Number Changes ◽  
Skewed X Chromosome Inactivation

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

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

scholarly journals Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation

2020 ◽  
Vol 6 (3) ◽  
pp. e420 ◽  
Author(s):  
Massimo Pandolfo ◽  
Myriam Rai ◽  
Gauthier Remiche ◽  
Laurence Desmyter ◽  
Isabelle Vandernoot
Keyword(s):  
Hearing Loss ◽  
Intellectual Disability ◽  
Cerebellar Ataxia ◽  
X Chromosome ◽  
Behavior Disorder ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Behavioral Disorder ◽  
Maternal Uncle ◽  
And Behavior

ObjectiveTo describe the clinical and molecular genetic findings in a family segregating a novel mutation in the AIFM1 gene on the X chromosome.MethodsWe studied the clinical features and performed brain MRI scans, nerve conduction studies, audiometry, cognitive testing, and clinical exome sequencing (CES) in the proband, his mother, and maternal uncle. We used in silico tools, X chromosome inactivation assessment, and Western blot analysis to predict the consequences of an AIFM1 variant identified by CES and demonstrate its pathogenicity.ResultsThe proband and his maternal uncle presented with childhood-onset nonprogressive cerebellar ataxia, hearing loss, intellectual disability (ID), peripheral neuropathy, and mood and behavioral disorder. The proband's mother had mild cerebellar ataxia, ID, and mood and behavior disorder, but no neuropathy or hearing loss. The 3 subjects shared a variant (c.1195G>A; p.Gly399Ser) in exon 12 of the AIFM1 gene, which is not reported in the exome/genome sequence databases, affecting a critical amino acid for protein function involved in NAD(H) binding and predicted to be pathogenic with very high probability by variant analysis programs. X chromosome inactivation was highly skewed in the proband's mother. The mutation did not cause quantitative changes in protein abundance.ConclusionsOur report extends the molecular and phenotypic spectrum of AIFM1 mutations. Specific findings include limited progression of neurologic abnormalities after the first decade and the coexistence of mood and behavior disorder. This family also shows the confounding effect on the phenotype of nongenetic factors, such as alcohol and drug use and side effects of medication.

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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