scholarly journals Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Silvia Vidal ◽  
Ainhoa Pascual‐Alonso ◽  
Marc Rabaza‐Gairí ◽  
Edgar Gerotina ◽  
Nuria Brandi ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Gene Dosage ◽  
Mecp2 Gene ◽  
Large Deletions

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

2004 ◽  
Vol 23 (3) ◽  
pp. 234-244 ◽  
Author(s):  
Franco Laccone ◽  
Ivonne Jünemann ◽  
Sharon Whatley ◽  
Rhian Morgan ◽  
Rachel Butler ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Gene Dosage ◽  
Mecp2 Gene ◽  
Large Deletions

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

2004 ◽  
Vol 23 (4) ◽  
pp. 395-395 ◽  
Author(s):  
Franco Laccone ◽  
Ivonne Jünemann ◽  
Sharon Whatley ◽  
Rhian Morgan ◽  
Rachel Butler ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Gene Dosage ◽  
Mecp2 Gene ◽  
Large Deletions

Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients

2010 ◽  
Vol 32 (10) ◽  
pp. 843-848 ◽  
Author(s):  
Leila Schuindt Monnerat ◽  
Aline dos Santos Moreira ◽  
Maria Carolina Viana Alves ◽  
Cibele Rodrigues Bonvicino ◽  
Fernando Regla Vargas
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene ◽  
Sequence Variations ◽  
Identification And Characterization

scholarly journals Rett syndrome: clinical and molecular characterization of two Brazilian patients

2007 ◽  
Vol 65 (1) ◽  
pp. 36-40 ◽  
Author(s):  
Andrea Stachon ◽  
Francisco Baptista Assumpção Jr ◽  
Salmo Raskin
Keyword(s):  
Growth Rate ◽  
Genetic Counseling ◽  
Rett Syndrome ◽  
Broad Spectrum ◽  
Social Withdrawal ◽  
Hand Movements ◽  
Mecp2 Gene ◽  
Head Growth ◽  
Communication Impairment

BACKGROUND: Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies. OBJECTIVE: To describe two cases of Brazilian patients with identified MECP2 mutations. METHOD: We present two female Brazilian patients with RS. RESULTS: Both patients presented with regression at 2-3 years of age, when stereotypic hand movements, social withdrawal and postnatal deceleration of head growth rate were observed. Both patients presented verbal communication impairment. Case 1 had loss of purposeful hand movements, and severe seizure episodes. Case 2 had milder impairment of purposeful hand movements, and no seizures. They had different mutations, D97Y and R294X, found in exons 3 and 4 of MECP2 gene, respectively. CONCLUSION: Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.

scholarly journals Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

2007 ◽  
Vol 15 (12) ◽  
pp. 1218-1229 ◽  
Author(s):  
Simon A Hardwick ◽  
Kirsten Reuter ◽  
Sarah L Williamson ◽  
Vidya Vasudevan ◽  
Jennifer Donald ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Familial Case ◽  
Mecp2 Gene ◽  
Large Deletions

Multiplex Ligation-Dependent Probe Amplification (MLPA) Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome Patients

2003 ◽  
Vol 7 (4) ◽  
pp. 329-332 ◽  
Author(s):  
Anna Erlandson ◽  
Lena Samuelsson ◽  
Bengt Hagberg ◽  
Mårten Kyllerman ◽  
Mihailo Vujic ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene ◽  
Large Deletions ◽  
Dependent Probe

Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome

2006 ◽  
Vol 70 (5) ◽  
pp. 418-419 ◽  
Author(s):  
H Pan ◽  
M-R Li ◽  
P Nelson ◽  
X-H Bao ◽  
X-R Wu ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Chinese Patients ◽  
Mecp2 Gene ◽  
Large Deletions

Characterization of Partial Gene Deletions in Type III von Willebrand Disease with Alloantibody Inhibitors

1994 ◽  
Vol 72 (02) ◽  
pp. 180-185 ◽  
Author(s):  
David J Mancuso ◽  
Elodee A Tuley ◽  
Ricardo Castillo ◽  
Norma de Bosch ◽  
Pler M Mannucci ◽  
...  
Keyword(s):  
Von Willebrand Factor ◽  
Von Willebrand Disease ◽  
Pcr Analysis ◽  
Gene Deletions ◽  
Factor Gene ◽  
Type Iii ◽  
Large Deletions ◽  
Von Willebrand ◽  
Willebrand Factor

Summaryvon Willebrand factor gene deletions were characterized in four patients with severe type III von Willebrand disease and alloantibodies to von Willebrand factor. A PCR-based strategy was used to characterize the boundaries of the deletions. Identical 30 kb von Willebrand factor gene deletions which include exons 33 through 38 were identified in two siblings of one family by this method. A small 5 base pair insertion (CCTGG) was sequenced at the deletion breakpoint. PCR analysis was used to detect the deletion in three generations of the family, including two family members who are heterozygous for the deletion. In a second family, two type III vWD patients, who are distant cousins, share an -56 kb deletion of exons 22 through 43. The identification and characterization of large vWF gene deletions in these type III vWD patients provides further support for the association between large deletions in both von Willebrand factor alleles and the development of inhibitory alloantibodies.

scholarly journals Characterization of Caenorhabditis elegans Homologs of the Down Syndrome Candidate Gene DYRK1A

Genetics ◽  
2003 ◽  
Vol 163 (2) ◽  
pp. 571-580 ◽  
Author(s):  
William B Raich ◽  
Celine Moorman ◽  
Clay O Lacefield ◽  
Jonah Lehrer ◽  
Dusan Bartsch ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Caenorhabditis Elegans ◽  
Trisomy 21 ◽  
Gene Dosage ◽  
Inducible Promoters ◽  
C Elegans ◽  
Dual Specificity ◽  
Specificity Protein

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.

scholarly journals Clinical Evaluation of Patients with Classical Rett Syndrome and MECP2 Gene Analysis

2021 ◽  
Vol 35 (1) ◽  
pp. 87-97
Author(s):  
Filiz Hazan ◽  
Semra Gürsoy ◽  
Aycan Ünalp ◽  
Ünsal Yılmaz
Keyword(s):  
Rett Syndrome ◽  
Clinical Evaluation ◽  
Gene Analysis ◽  
Mecp2 Gene
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