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Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
Author(s) -
Kim SooJeong,
Cook Edwin H.
Publication year - 2000
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/(sici)1098-1004(200004)15:4<382::aid-humu16>3.0.co;2-8
Subject(s) - rett syndrome , mecp2 , microcephaly , nonsense mutation , biology , genetics , mutation , neurodevelopmental disorder , autism , hyperventilation , nonsense , phenotype , intellectual disability , missense mutation , medicine , gene , psychiatry
Because of the recent identification of several mutations of methyl‐CpG‐binding protein 2 ( MECP2 ) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which leads to the most severely truncated MECP2 protein reported to date. Sequencing of parental DNA revealed the mutation was de novo . The patient was not affected with microcephaly or hyperventilation, but had other features of Rett syndrome including severe mental retardation and symptoms of autistic disorder. Moderately skewed X‐chromosome inactivation (XCI) may have contributed to her relatively mild phenotype. Hum Mutat 15:382–383, 2000. © 2000 Wiley‐Liss, Inc.