A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family[J].Journal of the Neurological Sciences 2004,221(1-2).Tang BS, Li HY, Xia K, et al. A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family [ J ]. J...
The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac ...
Related to gain-of-function mutation:back mutation,genetic mutation,gene mutation,conditional mutant mu·ta·tion (myo͞o-tā′shən) n. 1.The act or process of being altered or changed. 2.An alteration or change, as in nature, form, or quality. ...
Chromosome 11; EMG syndrome (alias); Cancer Prone Diseases Section; CDKN1C protein, human; H19 RNA; IGF2 protein, human; KCNQ1OT1 protein, human; ZNF215 pr... WWK Lam,ER Maher - 《Current Paediatrics》 被引量: 3发表: 1998年 A novel KCNQ2 missense variant in non-syndromic intellectu...
a.a sudden departure from the parent type in one or more heritable characteristics, caused by a change in a gene or a chromosome. b.an individual, species, or the like resulting from such a departure. 2.the act or process of changing. ...
Two classes of gene mutations are recognized: point mutations and intragenic deletions. Two different types of point mutation have been described. In the first of these, one nucleic acid base is substituted for another. The second type of change results from the insertion of a base into, or ...
A homozygous mutation (c.477 + 1 G > A) at the splice donor site in exon-2–intron-2 junction (mentioned as exon-2 in the study of Zehelein et al., 2006) in the KCNQ1 gene found as causal mutations in JLNs patients. At the mRNA level this donor site mutation exclusively ...
(a) and one missense gene (KCNQ2) (b) that are biased for an ID/DD diagnosis at aq-value threshold of 0.1 (one-tailed Fisher’s exact test). Additional candidates for phenotypic bias at nominal significance (dashed lines atP = 0.05, one-tailed Fisher’s exact test) were also ...
Following genetic testing of the family which confirmed the absence of mutations in genes known to cause familial AF (GJA5, KCNA5, KCNE2, KCNJ2, KCNQ1, KCNH2, NPPA and SCN5A), the possibility of a mutation in a novel gene was considered. Whole-exome sequencing was performed in ...
Objective To identify the prevalence of KCNQ4 in the Chinese population with high frequency hearing loss and to study the mechanism of hearing loss associated with the KCNQ4 gene in both normal and hearing impairment populations.Methods 71 patients with high frequency hearing impairment and 40 normal...