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Authordc.contributor.authorLacassie, Yves 
Authordc.contributor.authorJohnson, Britt 
Authordc.contributor.authorLay-Son, Guillermo 
Authordc.contributor.authorQuintana, Rita 
Authordc.contributor.authorKing, Andrew 
Authordc.contributor.authorCortés, Fanny 
Authordc.contributor.authorÁlvarez, Cecilia 
Authordc.contributor.authorGómez, Ricardo 
Authordc.contributor.authorVargas, Alfonso 
Authordc.contributor.authorChalew, Stuart 
Authordc.contributor.authorKing, Alejandra 
Authordc.contributor.authorGuardia, Sylvia 
Authordc.contributor.authorSorensen, Ricardo U. 
Authordc.contributor.authorAradhya, Swaroop 
Admission datedc.date.accessioned2020-06-11T22:21:54Z
Available datedc.date.available2020-06-11T22:21:54Z
Publication datedc.date.issued2020
Cita de ítemdc.identifier.citationAmerican Journal of Medical Genetics Part A (Apr 2020)es_ES
Identifierdc.identifier.other10.1002/ajmg.a.61597
Identifierdc.identifier.urihttp://repositorio.uchile.cl/handle/2250/175417
Abstractdc.description.abstractAutosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger-Huet anomaly in this disorder led to its name as an acronym for Short stature, Optic nerve atrophy, and Pelger-Huet anomaly. Recent publications have further contributed to the characterization of this syndrome through additional phenotype-genotype correlations. We review the clinical features described in these publications and report on a 27-year-old woman with dwarfism with osteolysis and multiple skeletal problems, minor anomalies, immunodeficiency, diabetes mellitus, and multiple secondary medical problems. Her condition was considered an unknown autosomal recessive disorder for many years until exome sequencing provided the diagnosis by revealing a founder disease-causing variant that was compound heterozygous with a novel pathogenic variant in NBAS. Based on the major clinical features of this individual and others reported earlier, a revision of the acronym is warranted to facilitate clinical recognition.es_ES
Lenguagedc.language.isoenes_ES
Publisherdc.publisherWileyes_ES
Sourcedc.sourceAmerican Journal of Medical Genetics Part Aes_ES
Keywordsdc.subjectCombined immunodeficiencyes_ES
Keywordsdc.subjectDiabetes mellituses_ES
Keywordsdc.subjectDwarfism and osteolysises_ES
Keywordsdc.subjectLong survivales_ES
Keywordsdc.subjectNovel NBAS variantes_ES
Keywordsdc.subjectSOPH syndromees_ES
Keywordsdc.subjectAcute liver-failurees_ES
Keywordsdc.subjectAmplified sequence genees_ES
Keywordsdc.subjectDeficiencyes_ES
Keywordsdc.subjectOnsetes_ES
Keywordsdc.subjectBonees_ES
Títulodc.titleSevere SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decadeses_ES
Document typedc.typeArtículo de revistaes_ES
Catalogueruchile.catalogadorrvhes_ES
Indexationuchile.indexArtículo de publicación ISIes_ES
Access notedct.AccessRightsSin acceso a texto completoes_ES


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