Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

• Published in: Clinical genetics Vol. 59; no. 6; pp. 406 - 417
• Main Authors: Lebo, RV, Ikuta, T, Milunsky, JM, Milunsky, A
• Format: Journal Article
• Language: English
• Published: Copenhagen Munksgaard International Publishers 01.06.2001; Blackwell
• Subjects: Biological and medical sciences; Child; Child, Preschool; Chromosomal Proteins, Non-Histone; CpG Islands; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; deletions; DNA-Binding Proteins - genetics; Female; Humans; MECP2; Medical sciences; Methyl-CpG-Binding Protein 2; Neurology; polypurines; Repressor Proteins; Rett; Rett Syndrome - genetics; Sequence Deletion; unequal recombination; Human; Sex linked character; Nervous system diseases; Pathogenesis; Genetic determinism; Cerebral disorder; Genetic disease; Case study; Allele; Gene; Central nervous system disease; Rett syndrome; Degenerative disease; X-Chromosome; Mutation; Non homologous recombination

Rett syndrome results from mutations in the X‐linked methyl‐CpG‐binding protein 2 (MECP2) gene, which are nearly always lethal in males and lead to regression and reduced life expectancy in females. Herein we report one propositus with five tandem deletions and a second propositus with three tandem...