Article
A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.
Genetic testing and molecular biomarkers - 1 Feb 2009
Fendri-Kriaa Nourhène, Abdelkafi Zaineb, Rebeh Imen Ben, Kamoun Fatma, Triki Chahnez, Fakhfakh Faiza
Abstract excerpt
Patients with classical Rett show an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they enter a short period of developmental stagnation followed by a rapid regression in language and motor development. Purposeful hand use is often lost and replaced by repetitive, stereotypic movements. Rett syndrome (RTT) is an X-linked dominant disorder caused frequently by...
Topics
- Adolescent
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Codon, Nonsense
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Frameshift Mutation
- Humans
- Methyl-CpG-Binding Protein 2
- Molecular Sequence Data
- Mutation
- Point Mutation
- Protein Structure, Tertiary
- Rett Syndrome
- Sequence Deletion