Asunto(s)
Psoriasis/inmunología , Infecciones del Sistema Respiratorio/complicaciones , Brote de los Síntomas , Virosis/complicaciones , Adulto , Femenino , Humanos , Masculino , Proyectos Piloto , Psoriasis/diagnóstico , Psoriasis/genética , Infecciones del Sistema Respiratorio/inmunología , Infecciones del Sistema Respiratorio/virología , Índice de Severidad de la Enfermedad , Virosis/inmunología , Virosis/virologíaAsunto(s)
Glucosiltransferasas/genética , Hiperpigmentación/genética , Enfermedades Cutáneas Genéticas/genética , Enfermedades Cutáneas Papuloescamosas/genética , Codón sin Sentido , Femenino , Humanos , Hiperpigmentación/diagnóstico , Hiperpigmentación/patología , Persona de Mediana Edad , Hermanos , Enfermedades Cutáneas Genéticas/diagnóstico , Enfermedades Cutáneas Genéticas/patología , Enfermedades Cutáneas Papuloescamosas/diagnóstico , Enfermedades Cutáneas Papuloescamosas/patologíaAsunto(s)
Acné Vulgar/genética , Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas del Citoesqueleto/genética , Hidradenitis Supurativa/genética , Piodermia Gangrenosa/genética , Acné Vulgar/patología , Adulto , Hidradenitis Supurativa/patología , Homocigoto , Humanos , Masculino , Regiones Promotoras Genéticas/genética , Piodermia Gangrenosa/patología , Síndrome , MusloAsunto(s)
Acné Vulgar/genética , Secretasas de la Proteína Precursora del Amiloide/genética , Hidradenitis Supurativa/genética , Glicoproteínas de Membrana/genética , Mutación/genética , Piodermia Gangrenosa/genética , Acné Vulgar/diagnóstico , Proteínas Adaptadoras Transductoras de Señales/genética , Adolescente , Artritis Infecciosa/diagnóstico , Artritis Infecciosa/genética , Niño , Proteínas del Citoesqueleto/genética , Diagnóstico Diferencial , Humanos , Masculino , Linaje , Piodermia Gangrenosa/diagnóstico , SíndromeRESUMEN
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.