A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus

2004 ◽  
Vol 27 (2) ◽  
pp. 167-170 ◽  
Author(s):  
K. Kinoshita ◽  
Y. Miura ◽  
H. Nagasaki ◽  
T. Murase ◽  
Y. Bando ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Female Patient ◽  
X Chromosome ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Vasopressin Receptor ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
Skewed X Chromosome Inactivation

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

2005 ◽  
Vol 136A (2) ◽  
pp. 190-193 ◽  
Author(s):  
Alberto Hidalgo-Bravo ◽  
Ericka N. Pompa-Mera ◽  
Susana Kofman-Alfaro ◽  
Cesar R. Gonzalez-Bonilla ◽  
Juan Carlos Zenteno
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Filamin A ◽  
Skewed X Chromosome Inactivation

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation

2015 ◽  
Vol 62 (7) ◽  
pp. 1288-1290 ◽  
Author(s):  
Jennifer R. Holle ◽  
Rebecca A. Marsh ◽  
Anna Maria Holdcroft ◽  
Stella M. Davies ◽  
Lijun Wang ◽  
...  
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
Hemophagocytic Lymphohistiocytosis ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

scholarly journals Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Teva Brender ◽  
Donna Wallerstein ◽  
John Sum ◽  
Robert Wallerstein
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
Medical Literature ◽  
Proteolipid Protein ◽  
X Chromosome Inactivation ◽  
Unusual Presentation ◽  
Chromosome Inactivation ◽  
Myelin Protein ◽  
Pelizaeus Merzbacher Disease ◽  
Skewed X Chromosome Inactivation

Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency

2005 ◽  
Vol 118 (3-4) ◽  
pp. 458-465 ◽  
Author(s):  
Natalia Martinez-Pomar ◽  
Ivan Munoz-Saa ◽  
Damian Heine-Suner ◽  
Ana Martin ◽  
Asma Smahi ◽  
...  
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Incontinentia Pigmenti ◽  
New Mutation ◽  
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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