ENAM Mutations with Incomplete Penetrance

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...

Hart Mutations is Dosage - dependent ENAM Phenotype

LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.

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...

CNOT3 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...

TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....