Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and 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.

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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

Journal of Endocrinological Investigation ◽

10.1007/bf03346263 ◽

2004 ◽

Vol 27 (2) ◽

pp. 167-170 ◽

Cited By ~ 16

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

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

Human Genetics ◽

10.1007/s00439-005-0068-y ◽

2005 ◽

Vol 118 (3-4) ◽

pp. 458-465 ◽

Cited By ~ 42

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

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X-linked CNV and skewed X-chromosome inactivation

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.19-21 ◽

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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