ABSTRACT
Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and two rare missense mutations. We also review evidence for founder mutations among various ethnic/geographic groups. Founder WRN mutations had been previously reported in Japan and Northern Sardinia. Our Registry now suggests characteristic mutations originated in Morocco, Turkey, The Netherlands and elsewhere.
Subject(s)
Exodeoxyribonucleases/genetics , Mutation , RecQ Helicases/genetics , Werner Syndrome/genetics , Chromosome Breakpoints , Female , Founder Effect , Humans , Introns , Male , Mutation, Missense , Werner Syndrome HelicaseABSTRACT
El lupus eritematoso neonatal (LEN) es una entidad rara asociada al paso transplacentario de autoanticuerpos IgG maternos a la circulación fetal. Clínicamente se presenta con lesiones cutáneas similares al lupus eritematoso y/o afectación del sistema de conducción cardíaca. Se presenta el caso de dos gemelas biamnióticas, bicoriónicas, clínicamente concordantes, con LEN cutáneo asociado a anticuerpos anti-Ro, cuyos títulos fueron disminuyendo hasta desaparecer en el primer año de vida. Las lesiones cutáneas se resolvieron con corticoides tópicos de baja potencia. Son pocos los casos de LEN descritos en gemelos, y éstos pueden presentar sintomatología concordante o, con mayor frecuencia, discordante entre ellos. Este hecho refleja la complejidad de esta entidad, en la que posiblemente estén implicados factores inmunológicos, genéticos y otros aún no conocidos (AU)
Subject(s)
Humans , Female , Infant, Newborn , Lupus Erythematosus, Cutaneous/congenital , Autoantibodies/analysis , Biopsy , Risk Factors , Adrenal Cortex Hormones/therapeutic useABSTRACT
Superficial mucoceles are subepithelial extravasations of sialomucin that occur at the epithelial-connective tissue interface and are directly related to minor salivary glands. They have been described in association with oral lichen planus and, exceptionally, with chronic graft versus host disease. Three patients who underwent an allogeneic bone marrow transplantation for a chronic myelogenous leukaemia presented multiple superficial mucoceles and an oral lichenoid graft versus host disease.
