The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Alleles
Amino Acid Substitution
Autopsy
Comparative Genomic Hybridization
Female
Fetus
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genotype
Hand Deformities, Congenital
/ diagnosis
Heart Defects, Congenital
/ diagnosis
Humans
Hydrocephalus
/ diagnosis
Immunohistochemistry
Pedigree
Phenotype
Pregnancy
Proteins
/ genetics
Ultrasonography, Prenatal
HYLS1
ciliopathy
fetal pathology
hydrocephalus
hydrolethalus syndrome
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
23
06
2021
received:
12
04
2021
accepted:
24
06
2021
pubmed:
3
7
2021
medline:
1
2
2022
entrez:
2
7
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
HYLS1 protein, human
0
Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
462-467Informations de copyright
© 2021 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.
Références
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