Assuntos
Psoríase/imunologia , Infecções Respiratórias/complicações , Exacerbação dos Sintomas , Viroses/complicações , Adulto , Feminino , Humanos , Masculino , Projetos Piloto , Psoríase/diagnóstico , Psoríase/genética , Infecções Respiratórias/imunologia , Infecções Respiratórias/virologia , Índice de Gravidade de Doença , Viroses/imunologia , Viroses/virologiaAssuntos
Acne Vulgar/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas do Citoesqueleto/genética , Hidradenite Supurativa/genética , Pioderma Gangrenoso/genética , Acne Vulgar/patologia , Adulto , Hidradenite Supurativa/patologia , Homozigoto , Humanos , Masculino , Regiões Promotoras Genéticas/genética , Pioderma Gangrenoso/patologia , Síndrome , Coxa da PernaAssuntos
Glucosiltransferases/genética , Hiperpigmentação/genética , Dermatopatias Genéticas/genética , Dermatopatias Papuloescamosas/genética , Códon sem Sentido , Feminino , Humanos , Hiperpigmentação/diagnóstico , Hiperpigmentação/patologia , Pessoa de Meia-Idade , Irmãos , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/patologia , Dermatopatias Papuloescamosas/diagnóstico , Dermatopatias Papuloescamosas/patologiaAssuntos
Acne Vulgar/genética , Secretases da Proteína Precursora do Amiloide/genética , Hidradenite Supurativa/genética , Glicoproteínas de Membrana/genética , Mutação/genética , Pioderma Gangrenoso/genética , Acne Vulgar/diagnóstico , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/genética , Criança , Proteínas do Citoesqueleto/genética , Diagnóstico Diferencial , Humanos , Masculino , Linhagem , Pioderma Gangrenoso/diagnóstico , SíndromeRESUMO
INTRODUCTION: Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. Clinical overlap between Bardet-Biedl syndrome (BBS) and Alström syndrome has been described, although the two entities are genetically distinct. To date, 16 genes are known to be associated with BBS (BBS1-16) and only one gene has been identified for Alström syndrome (ALMS1). MATERIALS AND METHODS: In collaboration with the French National Center for Sequencing (CNS, Evry), all coding exons and flanking introns were sequenced for 27 ciliopathy genes (BBS1-12, MGC1203, TTC21b, AHI1, NPHP2-8 (NPHP6=BBS14), MKS1(BBS13), MKS3, C2ORF86, SDCCAG8, ALMS1) in 96 patients referred with a clinical diagnosis of BBS. ALMS1 gene analysis included sequencing of all coding exons. RESULTS: BBS known gene mutations were found in 44 patients (36 with two mutations and 8 heterozygous). ALMS1 mutations were found in four cases. The rate of ALMS1 mutations among patients suspected of having BBS was 4.2%. DISCUSSION: Clinically, all four patients presented early-onset severe retinal degeneration with congenital nystagmus associated with obesity. The difficult early differential diagnosis between the two syndromes is outlined. One mutation had already been reported (c.11310delAGAG/p.R3770fsX) and three were novel (c.2293C > T/p.Q765X, c.6823insA/p.R2275fsX, c.9046delA/p.N3016fsX). CONCLUSIONS: Ciliopathy genes sequencing can be very helpful in providing a timely diagnosis in this group of patients, hence appropriate genetic counselling for families and adequate medical follow-up for affected children.