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]

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

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 >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Date de dépôt :

2024-01-16T00:02:24Z
2024-10-09T07:52:58Z