scholarly journals A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

2010 ◽  
Vol 31 (6) ◽  
pp. 742-751 ◽  
Author(s):  
Kathrin Bengesser ◽  
David N. Cooper ◽  
Katharina Steinmann ◽  
Lan Kluwe ◽  
Nadia A. Chuzhanova ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Low Copy Repeats ◽  
Nonallelic Homologous Recombination

scholarly journals A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Adrian Mc Cormack ◽  
Juliet Taylor ◽  
Leah Te Weehi ◽  
Donald R. Love ◽  
Alice M. George
Keyword(s):  
Homologous Recombination ◽  
Developmental Delay ◽  
Microarray Analysis ◽  
Lower Incidence ◽  
Clinical Phenotype ◽  
Microarray Technology ◽  
Dysmorphic Features ◽  
Low Copy Repeats ◽  
Nonallelic Homologous Recombination ◽  
Chromosome Regions

Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses theCRHR1, MAPT,andKANSL1genes, as well as a microdeletion in chromosome 7q31.33 that is localised within theGRM8gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

scholarly journals A Homozygous Deletion of the DPY19L2 Gene is a Cause of Globozoospermia in Men From the Republic of Macedonia

2013 ◽  
Vol 16 (1) ◽  
pp. 73-76 ◽  
Author(s):  
P Noveski ◽  
S Madjunkova ◽  
I Maleva ◽  
V Sotiroska ◽  
Z Petanovski ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Intracytoplasmic Sperm Injection ◽  
Case Reports ◽  
Homozygous Deletion ◽  
Success Rates ◽  
Republic Of Macedonia ◽  
Low Copy Repeats ◽  
Geographic Regions ◽  
The Republic ◽  
Nonallelic Homologous Recombination

Abstract Globozoospermia is a rare but severe teratozoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless spermatozoa. Men that are affected with total globozoospermia are infertile, and even the application of intracytoplasmic sperm injection (ICSI) has met with disappointingly low success rates. In humans, several case reports of globozoospermia have demonstrated that two or more siblings were affected in each family, which suggested a genetic component to this disease. Currently, three genes are known to be associated with total globozoospermia in humans, SPATA16, PICK1 and DPY19L2 genes. Mutations in SPATA16 and PICK1 are rare causes of globozoospermia, found in only one patient each. Several studies have suggested that DPY19L2 mutations are the major cause of globozoospermia in patients from different ethnic origins and different geographic regions. The most common DPY19L2 mutation is the 200 kb deletion arising from a nonallelic homologous recombination (NAHR) between the flanking low copy repeats (LCRs). Here we describe the presence of a homozygous deletion of the DPY19L2 gene in two infertile Macedonian patients with 100.0% round headed spermatozoa, thus suggesting that this deletion represents a major cause of globozoospermia among Macedonian men.

Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination

2018 ◽  
Vol 156 (2) ◽  
pp. 65-70
Author(s):  
Zhishuo Z. Ou ◽  
Sally Kochmar ◽  
Svetlana A. Yatsenko ◽  
Audrey C. Woerner ◽  
Roxanne Acquaro ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
De Novo ◽  
Chromosome Analysis ◽  
Bioinformatic Analysis ◽  
Deletion Syndrome ◽  
Fish Analysis ◽  
Feeding Difficulties ◽  
Low Copy Repeats ◽  
5P Deletion ◽  
Nonallelic Homologous Recombination

We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, microcephaly, micrognathia, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay. In addition, the patient also had a cardiac defect, proximal esophageal atresia, and distal tracheoesophageal fistula. aCGH of the patient revealed a 22.9-Mb deletion of chromosome 5p15.33p14.3 and an 8.28-Mb duplication of chromosome 5q12.1q13.2. Parental chromosome analysis indicated that these alterations are de novo. Chromosome and FISH analysis demonstrated that the 5q12.1q13.2 duplicated segment was attached to the 5p14.3 region with the band 5q12.1 more distal to the centromere than the band 5q13.2. Based on the bioinformatic analysis, we postulate a mechanism for the formation of this complex rearrangement of chromosome 5 by 2-step-wise events mediate by nonallelic homologous recombination between low copy repeats. To the best of our knowledge this rearrangement found in our patient has not been reported in the literature. This report demonstrates the value of chromosome analysis in conjunction with FISH and aCGH for identification of complex rearrangements which cannot be revealed by array analysis alone.

scholarly journals Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

2010 ◽  
Vol 31 (10) ◽  
pp. 1163-1173 ◽  
Author(s):  
Angelika C. Roehl ◽  
Julia Vogt ◽  
Tanja Mussotter ◽  
Antje N. Zickler ◽  
Helene Spöti ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Molecular Mechanism ◽  
Nonallelic Homologous Recombination

scholarly journals Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

2015 ◽  
Vol 43 (4) ◽  
pp. 2188-2198 ◽  
Author(s):  
Michał Startek ◽  
Przemyslaw Szafranski ◽  
Tomasz Gambin ◽  
Ian M. Campbell ◽  
Patricia Hixson ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Genome Wide ◽  
Nonallelic Homologous Recombination

Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with LargeNF1Deletions Mediated by Nonallelic Homologous Recombination

2013 ◽  
Vol 35 (2) ◽  
pp. 215-226 ◽  
Author(s):  
Kathrin Bengesser ◽  
Julia Vogt ◽  
Tanja Mussotter ◽  
Victor-Felix Mautner ◽  
Ludwine Messiaen ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Gene Conversion ◽  
Nonallelic Homologous Recombination

A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome

Blood ◽  
2012 ◽  
Vol 119 (2) ◽  
pp. 591-601 ◽  
Author(s):  
Nigel J. Francis ◽  
Bairbre McNicholas ◽  
Atif Awan ◽  
Mary Waldron ◽  
Donal Reddan ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Hemolytic Uremic Syndrome ◽  
Structural Integrity ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Chromosome 1 ◽  
Regulatory Function ◽  
Uremic Syndrome ◽  
Nonallelic Homologous Recombination ◽  
Genomic Disorders

Abstract Genomic disorders affecting the genes encoding factor H (fH) and the 5 factor H related proteins have been described in association with atypical hemolytic uremic syndrome. These include deletions of CFHR3, CFHR1, and CFHR4 in association with fH autoantibodies and the formation of a hybrid CFH/CFHR1 gene. These occur through nonallelic homologous recombination secondary to the presence of large segmental duplications (macrohomology) in this region. Using multiplex ligation-dependent probe amplification to screen for such genomic disorders, we have identified a large atypical hemolytic uremic syndrome family where a deletion has occurred through microhomology-mediated end joining rather than nonallelic homologous recombination. In the 3 affected persons of this family, we have shown that the deletion results in formation of a CFH/CFHR3 gene. We have shown that the protein product of this is a 24 SCR protein that is secreted with normal fluid-phase activity but marked loss of complement regulation at cell surfaces despite increased heparin binding. In this study, we have therefore shown that microhomology in this area of chromosome 1 predisposes to disease associated genomic disorders and that the complement regulatory function of fH at the cell surface is critically dependent on the structural integrity of the whole molecule.

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