X chromosome inactivation analysis reveals a difference in the biology of ET patients with JAK2 and CALR mutations

Blood ◽  
2014 ◽  
Vol 124 (13) ◽  
pp. 2091-2093 ◽  
Author(s):  
Christopher Allen ◽  
Jonathan R. Lambert ◽  
David C. Linch ◽  
Rosemary E. Gale
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Wild Type ◽  
Key Points ◽  
Inactivation Pattern ◽  
Calr Mutations ◽  
Calr Mutation

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.

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review

2016 ◽  
Vol 170 (12) ◽  
pp. 3271-3275
Author(s):  
Adriana Di-Battista ◽  
Vera Ayres Meloni ◽  
Magnus Dias da Silva ◽  
Mariana Moysés-Oliveira ◽  
Maria Isabel Melaragno
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Inactivation Pattern

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.

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

Thyroid ◽  
2009 ◽  
Vol 19 (2) ◽  
pp. 165-169 ◽  
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

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

2013 ◽  
Vol 21 (12) ◽  
pp. 1396-1402 ◽  
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

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

Blood ◽  
1990 ◽  
Vol 75 (12) ◽  
pp. 2369-2374 ◽  
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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