Title :

The first Two non-Finnish HYLS1 Variants: expanding the phenotypic spectrum of Hydrolethalus Syndrome.

Author(s) :

Ghesh, Leïla [Auteur]
Centre Hospitalier Universitaire de Nantes = Nantes University Hospital [CHU Nantes]
Denis Musquer, M. [Auteur]
Devisme, Louise [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Stichelbout, Morgane [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Boutaud, L. [Auteur]
Elkhartoufi, N. [Auteur]
Vaast, Pascal [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Boute, Odile [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Riteau, A. S. [Auteur]
Le Vaillant, C. [Auteur]
Winer, N. [Auteur]
Joubert, M. [Auteur]
Bezieau, S. [Auteur]
Thomas, S. [Auteur]
Attie-Bitach, T. [Auteur]
Beneteau, Claire [Auteur]
Centre Hospitalier Universitaire de Nantes = Nantes University Hospital [CHU Nantes]

Journal title :

Clinical Genetics

Abbreviated title :

Clin Genet

Volume number :

100

Pages :

462-467

Publisher :

Wiley Online Library

Publication date :

2021-07-12

ISSN :

1399-0004

English keyword(s) :

ciliopathy
fetal pathology
hydrocephalus
hydrolethalus syndrome
HYLS1

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the HYLS1 gene was identified. ...
Show more >Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the HYLS1 gene was identified. No other HYLS1 variant has hitherto been implicated in HLS. We report two unrelated French fetuses presenting with a phenotype of HLS with brain abnormalities, limbs malformations with pre and postaxial hexadactyly and abnormal genitalia. These two fetuses have compound heterozygous variants in HYLS1. The first allele carries the same Finnish missense variant (NM_145014.2: c.632A > G, p.[Asp211Gly]) in both fetuses and the second allele carries a new missense variant (c.662G > C, p.[Arg221Pro]) in the first fetus, and a new nonsense variant (c.613C > T, p.[Arg205*]) in the second fetus. This is the first report of HYLS1 mutated cases outside Finland. Both cases presented here are consistent with HLS with additional malformations, allowing expansion of the phenotypic presentation previously described.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2024-06-25T21:50:36Z
2024-10-02T07:40:15Z