Correlation between sexual phenotype and X-chromosome inactivation pattern in the X*XY wood lemming

Key Points In ET, a CALR mutation correlates with a monoclonal X chromosome inactivation pattern, which differs from JAK2V617F mutant disease. The presence of a CALR mutant is associated with suppression of wild-type myelopoiesis.

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No Link Between X Chromosome Inactivation Pattern and Simple Goiter in Females: Evidence from a Twin Study

Thyroid ◽

10.1089/thy.2008.0380 ◽

2009 ◽

Vol 19 (2) ◽

pp. 165-169 ◽

Cited By ~ 5

Author(s):

Thomas Heiberg Brix ◽

Pia Skov Hansen ◽

Gun Peggy S. Knudsen ◽

Marianne K. Kringen ◽

Kirsten Ohm Kyvik ◽

...

Keyword(s):

X Chromosome ◽

Twin Study ◽

X Chromosome Inactivation ◽

Chromosome Inactivation ◽

Inactivation Pattern

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Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

European Journal of Human Genetics ◽

10.1038/ejhg.2013.84 ◽

2013 ◽

Vol 21 (12) ◽

pp. 1396-1402 ◽

Cited By ~ 16

Author(s):

Nisa K E Renault ◽

Sonja M Pritchett ◽

Robin E Howell ◽

Wenda L Greer ◽

Carmen Sapienza ◽

...

Keyword(s):

X Chromosome ◽

X Chromosome Inactivation ◽

Chromosome Inactivation ◽

Random Choice ◽

Inactivation Pattern ◽

Better Than

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The pituitary-thyroid axis set point in women is uninfluenced by X chromosome inactivation pattern? A twin study

Clinical Endocrinology ◽

10.1111/j.1365-2265.2010.03848.x ◽

2010 ◽

Vol 73 (5) ◽

pp. 666-670 ◽

Cited By ~ 1

Author(s):

Thomas H. Brix ◽

Pia S. Hansen ◽

Kirsten O. Kyvik ◽

Laszlo Hegedüs

Keyword(s):

X Chromosome ◽

Twin Study ◽

X Chromosome Inactivation ◽

Chromosome Inactivation ◽

Set Point ◽

Inactivation Pattern ◽

Pituitary Thyroid Axis ◽

Thyroid Axis

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Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation [see comments]

Blood ◽

10.1182/blood.v75.12.2369.bloodjournal75122369 ◽

1990 ◽

Vol 75 (12) ◽

pp. 2369-2374 ◽

Cited By ~ 1

Author(s):

JM Puck ◽

KA Siminovitch ◽

M Poncz ◽

CR Greenberg ◽

M Rottem ◽

...

Keyword(s):

T Cell ◽

X Chromosome ◽

Hereditary Disease ◽

X Chromosome Inactivation ◽

Chromosome Inactivation ◽

Negative Family History ◽

Wiskott Aldrich Syndrome ◽

Inactivation Pattern ◽

Skewed X Chromosome Inactivation ◽

Cell Defect

Congenital thrombocytopenia may occur in isolation or accompanied by eczema and immunodeficiency, as part of the X-linked hereditary Wiskott- Aldrich syndrome (WAS). Because the clinical and immunologic picture of WAS is variable, particularly early in life, definite diagnosis cannot always be made in cases with a negative family history. Two unrelated males with sporadic congenital thrombocytopenia had only questionable immunologic abnormalities as infants, making them clinically indistinguishable from cases of isolated thrombocytopenia, although one developed episodic neutropenia and the other began to manifest a multisystem autoimmune disease at 2 years of age. Evaluation of X chromosome inactivation in the T cells of both patients' mothers showed each of these women to have the same highly skewed X chromosome inactivation pattern seen in carriers of typical familial WAS. A T-cell defect was subsequently directly demonstrated in the second patient, whose lymphocytes failed to proliferate to periodate and anti-CD43. Taken together, these data suggest the presence of T cell immunodeficiency consistent with WAS in these patients. Furthermore, their mothers were found to have a very high likelihood of being carriers, lending support to the diagnosis of a hereditary disease in these boys and making possible genetic prediction in other family members and subsequent pregnancies.

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