ROSAH syndrome mimicking chronic uveitis.
Type de document :
Article dans une revue scientifique: Article original
DOI :
PMID :
URL permanente :
Titre :
ROSAH syndrome mimicking chronic uveitis.
Auteur(s) :
Fardeau, Christine [Auteur]
CHU Pitié-Salpêtrière [AP-HP]
Alafaleq, M. [Auteur]
Dhaenens, Claire-Marie [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Dollfus, H. [Auteur]
Koné-Paut, I. [Auteur]
Grunewald, Olivier [Auteur]
Lille Neurosciences & Cognition - U 1172 [LilNCog]
Morel, J. B. [Auteur]
Titah, C. [Auteur]
Saadoun, D. [Auteur]
Lazeran, P. O. [Auteur]
Meunier, I. [Auteur]
CHU Pitié-Salpêtrière [AP-HP]
Alafaleq, M. [Auteur]
Dhaenens, Claire-Marie [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Dollfus, H. [Auteur]
Koné-Paut, I. [Auteur]
Grunewald, Olivier [Auteur]
Lille Neurosciences & Cognition - U 1172 [LilNCog]
Morel, J. B. [Auteur]
Titah, C. [Auteur]
Saadoun, D. [Auteur]
Lazeran, P. O. [Auteur]
Meunier, I. [Auteur]
Titre de la revue :
Clinical Genetics
Numéro :
103
Pagination :
453-458
Éditeur :
Wiley Online Library
Date de publication :
2022-12-28
ISSN :
1399-0004
Mot(s)-clé(s) :
alpha-protein kinase 1
cone-rod dystrophy
macular oedema
papillary oedema
retinal dystrophy
ROSAH syndrome
uveitis
cone-rod dystrophy
macular oedema
papillary oedema
retinal dystrophy
ROSAH syndrome
uveitis
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic ...
Lire la suite >To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, related to a unique missense variant in ALPK1 gene. Observational longitudinal follow-up study of unrelated families. Clinical analysis of ophthalmological and systemic examinations was performed, followed by genetic analysis, including targeted Next Generation Sequencing (NGS) and Whole-Genome Sequencing (WGS). The ophthalmological phenotype showed extensive optic nerve swelling associated with early macular oedema and vascular leakage. The main associated systemic manifestations were recurrent fever, splenomegaly, anhidrosis, mild cytopenia, anicocytosis and hypersegmented polynuclear cells. WGS, shortened in the second family by the gene candidate suggestion, revealed in all patients the heterozygous missense variant c.710C>T; p.(Thr237Met) in ALPK1. The primary morbidity in ROSAH syndrome in this cohort appeared ophthalmological. Comprehensive, detailed phenotype changes aided by the advancement in genetic testing could allow an early genetic diagnosis of ROSAH syndrome and targeted treatment. The unique missense variant may be suggested as a target of gene correction therapy.Lire moins >
Lire la suite >To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, related to a unique missense variant in ALPK1 gene. Observational longitudinal follow-up study of unrelated families. Clinical analysis of ophthalmological and systemic examinations was performed, followed by genetic analysis, including targeted Next Generation Sequencing (NGS) and Whole-Genome Sequencing (WGS). The ophthalmological phenotype showed extensive optic nerve swelling associated with early macular oedema and vascular leakage. The main associated systemic manifestations were recurrent fever, splenomegaly, anhidrosis, mild cytopenia, anicocytosis and hypersegmented polynuclear cells. WGS, shortened in the second family by the gene candidate suggestion, revealed in all patients the heterozygous missense variant c.710C>T; p.(Thr237Met) in ALPK1. The primary morbidity in ROSAH syndrome in this cohort appeared ophthalmological. Comprehensive, detailed phenotype changes aided by the advancement in genetic testing could allow an early genetic diagnosis of ROSAH syndrome and targeted treatment. The unique missense variant may be suggested as a target of gene correction therapy.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Inserm
CHU Lille
Inserm
CHU Lille
Collections :
Date de dépôt :
2024-01-16T00:02:24Z
2024-10-09T07:52:58Z
2024-10-09T07:52:58Z
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