Mutation Detection Rate in Female Patients with Reduced Factor VIII Activity and Negative Family History for Hemophilia A

2008 ◽  
pp. 106-108
Author(s):  
N. Bogdanova ◽  
A. Markoff ◽  
U. Antkowiak ◽  
U. Nowak-Göttl ◽  
R. Eisert ◽  
...  
Keyword(s):  
Family History ◽  
Factor Viii ◽  
Detection Rate ◽  
Mutation Detection ◽  
Hemophilia A ◽  
Factor Viii Activity ◽  
Mutation Detection Rate ◽  
Negative Family History ◽  
Female Patients

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A

2005 ◽  
Vol 26 (3) ◽  
pp. 249-254 ◽  
Author(s):  
Nadja Bogdanova ◽  
Arseni Markoff ◽  
Hartmut Pollmann ◽  
Ulrike Nowak-Göttl ◽  
Roswith Eisert ◽  
...  
Keyword(s):  
Detection Rate ◽  
Mutation Detection ◽  
Hemophilia A ◽  
Severe Hemophilia ◽  
Mutation Detection Rate ◽  
Molecular Defects

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A

2007 ◽  
Vol 28 (1) ◽  
pp. 54-60 ◽  
Author(s):  
Nadja Bogdanova ◽  
Arseni Markoff ◽  
Roswith Eisert ◽  
Cornelia Wermes ◽  
Hartmut Pollmann ◽  
...  
Keyword(s):  
Detection Rate ◽  
Mutation Detection ◽  
Hemophilia A ◽  
Mutation Detection Rate ◽  
Molecular Defects

scholarly journals Retinoblastoma genetics screening and clinical management

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Himika Gupta ◽  
Sivasankar Malaichamy ◽  
Ashwin Mallipatna ◽  
Sakthivel Murugan ◽  
Nallathambi Jeyabalan ◽  
...  
Keyword(s):  
Clinical Management ◽  
Detection Rate ◽  
Mutation Detection ◽  
Gene Mutations ◽  
Disease Recurrence ◽  
Germline Mutations ◽  
Global Studies ◽  
Mutation Detection Rate ◽  
Gene Deletions

Abstract Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. Methods Fifty children with RB underwent complete clinical examination and appropriate multidisciplinary management. Screening of germline RB1 gene mutations was performed through next-generation sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The mutation and non-mutation groups were compared for clinical parameters especially severity, progression and recurrence. Results Twenty-nine patients had bilateral RB (BLRB) and 21 had unilateral RB (ULRB). The genetic analysis revealed 20 RB1 variations in 29 probands, inclusive of 3 novel mutations, known 16 mutations and heterozygous whole gene deletions. The mutation detection rate (MDR) was 86.2% in BLRB and 19% in ULRB. Associations of disease recurrence (p = 0.021), progression (p = 0.000) and higher percentage of optic nerve invasion, subretinal seeds and high-risk pathological factors were observed in the mutation group. Clinical management was influenced by the presence of germline mutations, particularly while deciding on enucleation, frequency of periodic follow up and radiotherapy. Conclusions We identified novel RB1 mutations, and our mutation detection rate was on par with the previous global studies. In our study, genetic results influenced clinical management and we suggest that it should be an essential and integral component of RB-care in India and elsewhere.

scholarly journals Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 675
Author(s):  
Yoon-Jeon Kim ◽  
You-Na Kim ◽  
Young-Hee Yoon ◽  
Eul-Ju Seo ◽  
Go-Hun Seo ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Detection Rate ◽  
Mutation Detection ◽  
Retinal Disease ◽  
Mutation Detection Rate ◽  
Targeted Next Generation Sequencing ◽  
Initial Symptoms ◽  
Genetic Landscape ◽  
History Of ◽  
Genetic Profiles

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members underwent molecular analyses using TGS consisting of 88 RP-causing genes and/or WES with clinical variant interpretation. The combined genetic tests (TGS and/or WES) found a mutation in the 44 RP-causing genes and seven inherited retinal disease (IRD)-causing genes, and the total mutation detection rate was 57%. The mutation detection rate was higher in patients who experienced visual deterioration at a younger age (75.4%, age of symptom onset under 10 years) and who had a family history of RP (70.7%). The most common causative genes were EYS (8.2%), USH2A (6.8%), and PDE6B (4.7%), but mutations were dispersed among the 51 RP/IRD genes generally. Meanwhile, the PDE6B mutation was the most common in patients experiencing initial symptoms in their first decade, EYS in their second to third decades, and USH2A in their fifth decades and older. Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmological re-phenotyping.

Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

2003 ◽  
Vol 22 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Midori Mitui ◽  
Catarina Campbell ◽  
Gabriela Coutinho ◽  
Xia Sun ◽  
Chih-Hung Lai ◽  
...  
Keyword(s):  
Detection Rate ◽  
Mutation Detection ◽  
Mutation Detection Rate ◽  
Atm Gene ◽  
Gene Haplotype

scholarly journals Postpartum Acquired Hemophilia: A Rare Cause of Postpartum Hemorrhage

2013 ◽  
Vol 2013 ◽  
pp. 1-2 ◽  
Author(s):  
Srikanth Seethala ◽  
Sumit Gaur ◽  
Elizabeth Enderton ◽  
Javier Corral
Keyword(s):  
Factor Viii ◽  
Hemophilia A ◽  
Factor Vii ◽  
Normal Vaginal Delivery ◽  
Factor Viii Inhibitor ◽  
Activity Levels ◽  
Factor Viii Activity ◽  
Acquired Hemophilia A ◽  
Acquired Hemophilia ◽  
Viii Inhibitor

A 36-year-old female started having postpartum vaginal bleeding after normal vaginal delivery. She underwent hysterectomy for persistent bleeding and was referred to our institution. An elevation of PTT and normal PT made us suspect postpartum acquired hemophilia (PAH), and it was confirmed by low factor VIII activity levels and an elevated factor VIII inhibitor. Hemostasis was achieved with recombinant factor VII concentrates and desmopressin, and factor eradication was achieved with cytoxan, methylprednisolone, and plasmapheresis.

An investigation of PIK3CA mutations in isolated macrodactyly

2018 ◽  
Vol 43 (7) ◽  
pp. 756-760 ◽  
Author(s):  
Jingheng Wu ◽  
Wei Tian ◽  
Guanglei Tian ◽  
Kelli Sumner ◽  
Douglas T. Hutchinson ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Molecular Mechanism ◽  
Mutation Analysis ◽  
Detection Rate ◽  
Mutation Detection ◽  
Pik3ca Mutation ◽  
Mutation Detection Rate ◽  
Pik3ca Mutations ◽  
Diagnosis And Classification ◽  
Set Up

Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and classification. DNA extracted from affected tissues in 12 individuals with isolated macrodactyly was tested for PIK3CA mutation using targeted Sanger DNA sequencing. Ten patients had macrodactyly in the foot and two in the hand. Nine of the 12 patients were found to carry a low-level, mosaic PIK3CA mutation. The mutations identified, p.His1047Arg, p.His1047Leu, p.Glu545Lys, and p.Glu542Lys, are codons frequently mutated in cancers. Among all tissues tested, adipose had the highest mutation detection rate, followed by nerve and skin. Our results indicate that a high proportion of isolated macrodactyly patients carry a pathogenic PIK3CA mutation. Affected adipose, nerve and skin tissues are ideal for PIK3CA mutation analysis.

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