Subject(s)
Psoriasis/immunology , Respiratory Tract Infections/complications , Symptom Flare Up , Virus Diseases/complications , Adult , Female , Humans , Male , Pilot Projects , Psoriasis/diagnosis , Psoriasis/genetics , Respiratory Tract Infections/immunology , Respiratory Tract Infections/virology , Severity of Illness Index , Virus Diseases/immunology , Virus Diseases/virologySubject(s)
Glucosyltransferases/genetics , Hyperpigmentation/genetics , Skin Diseases, Genetic/genetics , Skin Diseases, Papulosquamous/genetics , Codon, Nonsense , Female , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/pathology , Middle Aged , Siblings , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/pathology , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/pathologySubject(s)
Acne Vulgaris/genetics , Adaptor Proteins, Signal Transducing/genetics , Cytoskeletal Proteins/genetics , Hidradenitis Suppurativa/genetics , Pyoderma Gangrenosum/genetics , Acne Vulgaris/pathology , Adult , Hidradenitis Suppurativa/pathology , Homozygote , Humans , Male , Promoter Regions, Genetic/genetics , Pyoderma Gangrenosum/pathology , Syndrome , ThighSubject(s)
Acne Vulgaris/genetics , Amyloid Precursor Protein Secretases/genetics , Hidradenitis Suppurativa/genetics , Membrane Glycoproteins/genetics , Mutation/genetics , Pyoderma Gangrenosum/genetics , Acne Vulgaris/diagnosis , Adaptor Proteins, Signal Transducing/genetics , Adolescent , Arthritis, Infectious/diagnosis , Arthritis, Infectious/genetics , Child , Cytoskeletal Proteins/genetics , Diagnosis, Differential , Humans , Male , Pedigree , Pyoderma Gangrenosum/diagnosis , SyndromeABSTRACT
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.
