Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families

2008 ◽  
Vol 146A (6) ◽  
pp. 758-763 ◽  
Author(s):  
Winnie Courtens ◽  
Inge Schramme ◽  
Annick Laridon
Keyword(s):  
Clinical Variability ◽  
Reduced Penetrance

scholarly journals The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

2009 ◽  
Vol 18 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Erik F Hensen ◽  
Jeroen C Jansen ◽  
Maaike D Siemers ◽  
Jan C Oosterwijk ◽  
Annette HJT Vriends ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Multigenerational Family ◽  
Reduced Penetrance

No impact of adult attachment and temperament on clinical variability in patients with clinically isolated syndrome and early multiple sclerosis

2013 ◽  
Vol 115 (3) ◽  
pp. 293-297 ◽  
Author(s):  
Christian Fazekas ◽  
Michael Khalil ◽  
Christian Enzinger ◽  
Franziska Matzer ◽  
Siegrid Fuchs ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Adult Attachment ◽  
Clinically Isolated Syndrome ◽  
Clinical Variability

scholarly journals Sporadic and familial glut1ds Italian patients: A wide clinical variability

Seizure ◽  
2015 ◽  
Vol 24 ◽  
pp. 28-32 ◽  
Author(s):  
Valentina De Giorgis ◽  
Federica Teutonico ◽  
Cristina Cereda ◽  
Umberto Balottin ◽  
Marika Bianchi ◽  
...  
Keyword(s):  
Clinical Variability

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

2008 ◽  
Vol 33 (5) ◽  
pp. 331-348 ◽  
Author(s):  
Marie T. Vanier ◽  
David A. Wenger ◽  
Marcella E. Comly ◽  
Robert Rousson ◽  
Roscoe O. Brady ◽  
...  
Keyword(s):  
Collaborative Study ◽  
Cholesterol Esterification ◽  
Disease Group ◽  
Clinical Variability ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

MASA syndrome: Clinical variability and linkage analysis

1991 ◽  
Vol 41 (1) ◽  
pp. 10-14 ◽  
Author(s):  
M. Rietschel ◽  
W. Friedl ◽  
S. Uhlhaas ◽  
M. Neugebauer ◽  
D. Heimann ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Clinical Variability

scholarly journals Mutation analysis of the NRXN1 gene in autism spectrum disorders

2016 ◽  
Vol 19 (2) ◽  
pp. 17-22 ◽  
Author(s):  
H Onay ◽  
D Kacamak ◽  
AN Kavasoglu ◽  
B Akgun ◽  
M Yalcinli ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Children And Adolescents ◽  
Gene Mutations ◽  
Autism Spectrum ◽  
Syndromic Autism ◽  
Spectrum Disorders ◽  
Strong Candidate ◽  
Reduced Penetrance

AbstractThe aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.

Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles

2021 ◽  
Author(s):  
Erin I. McDonnell ◽  
Yuanjia Wang ◽  
Jill Goldman ◽  
Karen Marder
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age Of Onset ◽  
Reduced Penetrance
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