Mosaicism and incomplete penetrance of PCDH19 mutations
نویسندگان
چکیده
منابع مشابه
Incomplete penetrance of MHC
We propose an approach to understanding incomplete penetrance of disease susceptibility genes as a method of studying the underlying mechanisms of polygenic diseases. Incomplete penetrance is the failure of genetically susceptible individuals to exhibit a trait. We define as baseline penetrance that which occurs in genetically identical (monozygotic) twins of an index subject with a major histo...
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BACKGROUND Several pathogenic mutations in the LRRK2 gene have been implicated in familial and sporadic cases of Parkinson disease (PD). The R1441G mutation is frequent in Spanish patients of Basque ethnicity with PD, and the G2019S mutation is a common mutation found in several populations worldwide. OBJECTIVES To determine the frequency of the LRRK2 G2019S and R1441G mutations in PD patient...
متن کاملCNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptomatic carriers are protected from the disease by a higher than average expressi...
متن کاملEffectiveness of antiepileptic therapy in patients with PCDH19 mutations
PURPOSE PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations. METHODS We report a retrospective multicenter study of antiepileptic therapy...
متن کاملPCDH19 mutations in female patients from Southern Italy
PURPOSE Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. We wished to explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy, from Southern Italy. METHODS Direct sequencing of PCDH19 gene was conducted in 31 unrelated female patients with early onset (<1 year of...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2018
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2017-105235