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Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy
Author(s) -
Bienvenu Thierry,
Souville Isabelle,
Poirier Karine,
Aquaviva Cécile,
Burglen Lydie,
Amiel Jeanne,
Héron Bénédicte,
Kaminska Anna,
Couvert Philippe,
Beldjord Cherif,
Chelly Jamel
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1182
Subject(s) - rett syndrome , frameshift mutation , mecp2 , exon , biology , genetics , mutation , gene , hum , phenotype , art , performance art , art history
Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70‐85% of RTT cases. We report here five novel frameshift mutations (named 345delC, 895del202, 989ins18del8, 996insAG and 1124del53) in exon 3 and 4 of the MECP2 gene. To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely. Hum Mutat 18:251–252, 2001. © 2001 Wiley‐Liss, Inc.