Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia

Platelets ◽  
2021 ◽  
pp. 1-5
Author(s):  
Natsumon Udomkittivorakul ◽  
Duangrurdee Wattanasirichaigoon ◽  
Wiparat Manuyakorn ◽  
Pongpak Pongphitcha ◽  
Arthaporn Khongkraparn ◽  
...  
Keyword(s):  
Syndrome X ◽  
Novel Mutations ◽  
Wiskott Aldrich Syndrome ◽  
Clinical Presentations

Detection of 28 novel mutations in the Wiskott–Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR

2007 ◽  
Vol 39 (1) ◽  
pp. 102-106 ◽  
Author(s):  
Alexis Proust ◽  
Benoît Guillet ◽  
Capucine Picard ◽  
Geneviève de Saint Basile ◽  
Corinne Pondarré ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Novel Mutations ◽  
Wiskott Aldrich Syndrome

scholarly journals Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia

Blood ◽  
2015 ◽  
Vol 126 (11) ◽  
pp. 1367-1378 ◽  
Author(s):  
Anja J. Gerrits ◽  
Emily A. Leven ◽  
Andrew L. Frelinger ◽  
Sophie L. Brigstocke ◽  
Michelle A. Berny-Lang ◽  
...  
Keyword(s):  
Platelet Count ◽  
Platelet Activation ◽  
Platelet Function ◽  
Syndrome X ◽  
Wiskott Aldrich Syndrome ◽  
Platelet Counts ◽  
Platelet Size ◽  
Key Points

Key Points Platelet function in WAS/XLT, measured by agonist-induced surface-activated GPIIb-IIIa and P-selectin, is proportional to platelet size. Eltrombopag increased platelet counts, but did not improve platelet activation, in most WAS/XLT patients.

scholarly journals Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene

2008 ◽  
Vol 45 (6) ◽  
pp. 606-609 ◽  
Author(s):  
B Wheeler ◽  
P M George ◽  
K MacKenzie ◽  
P Hunt ◽  
H C Potter ◽  
...  
Keyword(s):  
Anterior Pituitary ◽  
Late Onset ◽  
Gene Dosage ◽  
Sex Reversal ◽  
Novel Mutations ◽  
Salt Wasting ◽  
Hypogonadotrophic Hypogonadism ◽  
Congenital Adrenal Hypoplasia ◽  
Clinical Presentations ◽  
Adrenal Hypoplasia

Abnormalities in the DAX-1 gene (dosage-sensitive sex reversal–adrenal hypoplasia gene on the X chromosome) are a well-recognized cause of congenital adrenal hypoplasia. DAX-1 is expressed in the adrenal cortex, gonads, hypothalamus and anterior pituitary, which gives rise to the clinical features of this deletion. Presentations are varied but salt-wasting and/or hypoglycaemia are the most common in an infant, with late onset of hypogonadotrophic hypogonadism. Over 80 different mutations in this gene have been identified. We present three unrelated cases with variable clinical presentations, all with novel mutations in the DAX-1 gene.

Novel mutations inKLF1encoding the In(Lu) phenotype reflect a diversity of clinical presentations

Transfusion ◽  
2017 ◽  
Vol 58 (1) ◽  
pp. 196-199 ◽  
Author(s):  
Jessica Keller ◽  
Sunitha Vege ◽  
Trina Horn ◽  
Margaret A. Keller ◽  
Regina M. Leger ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Clinical Presentations

scholarly journals Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations

2002 ◽  
Vol 19 (2) ◽  
pp. 186-187 ◽  
Author(s):  
Jazmin El-Hakeh ◽  
Sergio Rosenzweig ◽  
Matias Oleastro ◽  
Nora Basack ◽  
Liliana Berozdnik ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Wiskott Aldrich Syndrome

scholarly journals Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

2017 ◽  
Vol 57 (5) ◽  
pp. 749-755 ◽  
Author(s):  
Nivedita U. Jerath ◽  
Ami Mankodi ◽  
Thomas O. Crawford ◽  
Christopher Grunseich ◽  
Hasna Baloui ◽  
...  
Keyword(s):  
Disease Type ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Clinical Presentations ◽  
Tooth Disease
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