Title :

ROSAH syndrome mimicking chronic uveitis.

Author(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]

Journal title :

Clinical Genetics

Volume number :

103

Pages :

453-458

Publisher :

Wiley Online Library

Publication date :

2022-12-28

ISSN :

1399-0004

Keyword(s) :

alpha-protein kinase 1
cone-rod dystrophy
macular oedema
papillary oedema
retinal dystrophy
ROSAH syndrome
uveitis

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Submission date :

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