一名男性非致命性、非进行性脑病中的MECP2突变
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
作者信息
Imessaoudene B, Bonnefont J P, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J
机构信息
Département de Génétique and INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
出版信息
J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171.
Abstract
To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females.
摘要
为研究瑞特综合征（RTT）与安吉尔曼综合征（AS）之间的临床重叠情况，我们在一组78例被诊断为可能患有AS但UBE3A基因座甲基化模式正常的患者中筛查了MECP2基因。在78例患者中的6例中鉴定出MECP2错义突变（R106W、G428S）、无义突变（R255X、R270X）和移码突变（803 delG），其中包括4/6例符合RTT的女性病例、1例新生儿期起病的进行性脑病女性病例以及1例新生儿期起病的非致命性、非进行性脑病男性散发病例。本研究表明，MECP2突变可导致广泛的临床表现，并提出了在男性和女性严重脑病中筛查MECP2基因这一难题。
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