MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

Autor: Isabelle Bouchardy, Charles-Antoine Haenggeli, Alexandre Dayer, Stylianos E. Antonarakis, Armand Bottani, Michael A. Morris, Joel Victor Fluss
Rok vydání: 2007
Předmět:
Adult
Male
Heterozygote
Inheritance Patterns/ genetics
Methyl-CpG-Binding Protein 2
Genetic counseling
DNA Mutational Analysis
Inheritance Patterns
Genetic Predisposition to Disease/ genetics
Mothers
Penetrance
Rett syndrome
medicine.disease_cause
MECP2
Neurodevelopmental disorder
X Chromosome Inactivation/genetics
Gene Frequency
Developmental Neuroscience
X Chromosome Inactivation
mental disorders
Rett Syndrome
medicine
Humans
Genetic Predisposition to Disease
Rett Syndrome/diagnosis/ genetics
Genetic Testing
Skewed X-inactivation
Genetic testing
ddc:616
Genetics
Mutation
medicine.diagnostic_test
Mutation/ genetics
Genetic Diseases
X-Linked
General Medicine
medicine.disease
Genetic Diseases
X-Linked/ genetics
Phenotype
Gene Frequency/genetics
Child
Preschool
Pediatrics
Perinatology and Child Health
Female
Neurology (clinical)
Psychology
Gene Deletion
Methyl-CpG-Binding Protein 2/ genetics
Zdroj: Brain & Development, Vol. 29, No 1 (2007) pp. 47-50
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2006.06.001
Popis: Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in the mother provides a possible explanation for the absence of penetrance. The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations.
Databáze: OpenAIRE
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