Study findings on Rett syndrome genetics are outlined in reports from M. Venāncio and colleagues
2007 AUG 28 -- A report, "An explanation for another familial case of Rett syndrome: maternal germline mosaicism," is newly published data in European Journal of Human Genetics. "Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10,000-15,000 females," scientists writing in the European Journal of Human Genetics report. "Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients. The most accepted explanation for the sex bias is that the Rett mutation in sporadic cases has its origin in the paternal germline X chromosome and can thus only be transmitted to females. The majority of cases are sporadic (99.5%) but some familial cases have been described. These cases can either be explained by germline mosaicism or by asymptomatic carrier mothers with skewing of X-inactivation towards the wild-type MECP2 allele. We describe one of the few familial cases of RTT in which a maternal germline mosaicism is the most likely explanation. The mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males. The mutation was absent in DNA extracted from blood of both parents," wrote M. Venāncio and colleagues, . The researchers concluded: "These type of events must be taken into consideration in the genetic counselling of families after the diagnosis of a first case of RTT in a female or a MECP2 mutation in a male." Venāncio and colleagues published their study in European Journal of Human Genetics (An explanation for another familial case of Rett syndrome: maternal germline mosaicism. European Journal of Human Genetics, 2007;15(8):902-4). Additional information can be obtained by contacting M. Venāncio, Hospital Pediatrico de Coimbra, Servico de Genetica Medica, Coimbra, Portugal. The publisher of the European Journal of Human Genetics can be contacted at: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England. Keywords: Portugal, Coimbra, Rett Syndrome Genetics, Genetics, Rett Syndrome. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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