Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies
نویسندگان
چکیده
منابع مشابه
A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG were performed. After...
متن کاملIntrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
BACKGROUND Most patients with Friedreich ataxia (FA) have a GAA trinucleotide repeat expansion in intron 1 of the FA gene (FRDA) on both arms of chromosome 9. However, some patients are compound heterozygotes and harbor a GAA expansion on one allele and a point mutation on the other. Compound heterozygous patients with FA who have a GAA expansion and a G130V mutation have been reported to have ...
متن کاملIntrafamilial phenotypic variability in four families with Anderson-Fabry disease.
We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10 years. We have found a wide range of intr...
متن کاملIntrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...
متن کاملAuthor's response to reviews Title:Intergenerational and Intrafamilial Phenotypic Variability in 22q11.2 Deletion syndrome Subjects Authors:
Emilia Cirillo ([email protected]) Giuliana Giardino ([email protected]) Vera Gallo ([email protected]) Pamela Puliafito ([email protected]) Chiara Azzari ([email protected]) Rosa Bacchetta ([email protected]) Fabio Cardinale ([email protected]) Maria Pia Cicalese ([email protected]) Rita Consolini ([email protected]) Silvana Martino (s...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Psychology
سال: 2018
ISSN: 1664-1078
DOI: 10.3389/fpsyg.2018.01615