Fraser syndrome without cryptophthalmos: two cases
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Fraser syndrome without cryptophthalmos: two cases
Auteur(s) :
Boussion, Simon [Auteur]
Lyonnet, Stanislas [Auteur]
Van Der Zwaag, B. [Auteur]
Vogel, M. J. [Auteur]
Smol, Thomas [Auteur]
Mezel, Aurelie [Auteur]
Manouvrier, Sylvie [Auteur]
Vincent, Catherine [Auteur]
Vanlerberghe, Clemence [Auteur]
Lyonnet, Stanislas [Auteur]
Van Der Zwaag, B. [Auteur]
Vogel, M. J. [Auteur]
Smol, Thomas [Auteur]
Mezel, Aurelie [Auteur]
Manouvrier, Sylvie [Auteur]
Vincent, Catherine [Auteur]
Vanlerberghe, Clemence [Auteur]
Titre de la revue :
European journal of medical genetics
Nom court de la revue :
Eur J Med Genet
Pagination :
103839
Date de publication :
2020-01-07
ISSN :
1878-0849
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This ...
Lire la suite >Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous or compound heterozygous mutations in the FRAS/FREM complex genes: FRAS1, FREM2 and GRIP1. Here we report two atypical cases of Fraser syndrome due to mutations in the FRAS1 gene without cryptophthalmos. The first proband had syndactyly of three extremities, bilateral nostril coloboma, dysplastic ears with bilateral conductive hearing loss, blepharophimosis and lacrimal duct abnormalities. FRAS1 sequencing identified two pathogenic compound heterozygous variants: a nonsense variant in exon 70 and a missense variant in exon 24. The second proband had membranous syndactyly of the four extremities, left renal agenesis, laryngeal and ano-rectal malformations, dysplastic ears and bilateral conductive hearing loss. FRAS1 sequencing identified a pathogenic homozygous variant in the last exon of the gene. This first description of molecularly confirmed cases with Fraser syndrome without cryptophthalmos could contribute to further delineation of the clinical spectrum of Fraser syndrome, especially for possible phenotypically milder cases. Larger cohorts are required to try to refer the hypothesis of genotype-phenotype correlation.Lire moins >
Lire la suite >Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous or compound heterozygous mutations in the FRAS/FREM complex genes: FRAS1, FREM2 and GRIP1. Here we report two atypical cases of Fraser syndrome due to mutations in the FRAS1 gene without cryptophthalmos. The first proband had syndactyly of three extremities, bilateral nostril coloboma, dysplastic ears with bilateral conductive hearing loss, blepharophimosis and lacrimal duct abnormalities. FRAS1 sequencing identified two pathogenic compound heterozygous variants: a nonsense variant in exon 70 and a missense variant in exon 24. The second proband had membranous syndactyly of the four extremities, left renal agenesis, laryngeal and ano-rectal malformations, dysplastic ears and bilateral conductive hearing loss. FRAS1 sequencing identified a pathogenic homozygous variant in the last exon of the gene. This first description of molecularly confirmed cases with Fraser syndrome without cryptophthalmos could contribute to further delineation of the clinical spectrum of Fraser syndrome, especially for possible phenotypically milder cases. Larger cohorts are required to try to refer the hypothesis of genotype-phenotype correlation.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:01:31Z