MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

Autor:	Franco Laccone, P. Huppke, M. Meins, R. Trappe, J. Cobilanschi, Wolfgang Engel, F. Hanefeld
Rok vydání:	2001
Předmět:	Male Chromosomal Proteins Non-Histone Genetic Linkage Methyl-CpG-Binding Protein 2 DNA Mutational Analysis medicine.disease_cause 0302 clinical medicine Neurodevelopmental disorder Gene Frequency Genotype Genetics(clinical) Genetics (clinical) X chromosome Sequence Deletion Genetics 0303 health sciences Mutation Articles DNA-Binding Proteins Female Maternal Age Adult congenital hereditary and neonatal diseases and abnormalities X Chromosome Molecular Sequence Data Rett syndrome Genetic Counseling Biology Polymorphism Single Nucleotide Paternal Age MECP2 03 medical and health sciences mental disorders medicine Rett Syndrome Humans Point Mutation Genetic Predisposition to Disease Allele Sex Distribution Alleles 030304 developmental biology Base Sequence Point mutation medicine.disease Introns Repressor Proteins 030217 neurology & neurosurgery
Zdroj:	American journal of human genetics. 68(5)
ISSN:	0002-9297
Popis:	Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that apparently is lethal in male embryos. RTT almost exclusively affects female offspring and, in 99.5% of all cases, is sporadic and due to de novo mutations in the MECP2 gene. Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. We analyzed the parental origin of MECP2 mutations in sporadic cases of RTT, by analysis of linkage between the mutation in the MECP2 gene and intronic polymorphisms in 27 families with 15 different mutations, and we found a high predominance of mutations of paternal origin in 26 of 27 cases (P
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9cfce3d3d883a66600eec8e4199151c https://pubmed.ncbi.nlm.nih.gov/11309679 Zobrazit plný text záznamu