Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Autor:	Marzin P; Centre de Référence pour les Maladies Osseuses Constitutionnelles, Fédération de médecine génomique des maladies rares, APHP, Hôpital Necker-Enfants Malades, F-75015 Paris, France.; Université Paris Cité, INSERM UMR1163, Institut Imagine, F-75 015, Paris, France., Rondeau S; Centre de Référence pour les Maladies Osseuses Constitutionnelles, Fédération de médecine génomique des maladies rares, APHP, Hôpital Necker-Enfants Malades, F-75015 Paris, France.; Université Paris Cité, INSERM UMR1163, Institut Imagine, F-75 015, Paris, France., Alessandri JL; Service de génétique médicale, CHU de la Réunion - Hôpital Félix Guyon, Bellepierre, 97405 Saint-Denis, France., Dieterich K; Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Medical Genetics, Institute for Advanced Biosciences, 38000 Grenoble, France., le Goff C; Université Paris Cité and Université Sorbonne Paris Nord, INSERM U1148, Laboratory of Vascular Translational Science, Bichat Hospital, Paris, France., Mahaut C; Université Paris Cité, INSERM UMR1163, Institut Imagine, F-75 015, Paris, France., Mercier S; Service de génétique médicale - Unité de Génétique clinique, CHU de Nantes - Hôtel Dieu, 1 place Alexis Ricordeau, 44093 Nantes, France., Michot C; Centre de Référence pour les Maladies Osseuses Constitutionnelles, Fédération de médecine génomique des maladies rares, APHP, Hôpital Necker-Enfants Malades, F-75015 Paris, France.; Université Paris Cité, INSERM UMR1163, Institut Imagine, F-75 015, Paris, France., Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal., Miolo G; : S.S.D. di Citogenetica e Genetica Molecolare, Dipartimento di Medicina di Laboratorio, Azienda Ospedaliera Santa Maria degli Angeli, Via Montereale 24, 33170 Porderone, Italy., Rossi M; Service de génétique, Hospices Civils de Lyon ; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Francannet C; Service de génétique médicale, CHU de Clermont-Ferrand, 1 place lucie et raymond Aubrac, 63003 Clermont-fd cedex 1, France., Robert MP; Service d'ophtalmologie, Hôpital Universitaire Necker - enfants malades, Paris, France.; Borelli Centre, UMR 9010 CNRS-SSA-ENS Paris Saclay-Paris University, Paris, France., Jaïs JP; Biostatistic Unit, Necker University Hospital, AP-HP, Paris, France.; Imagine Institute, Université Paris Cité, Paris, France.; Human genetics of infectious diseases: Complex predisposition, INSERM UMR1163, Paris, France., Huber C; Université Paris Cité, INSERM UMR1163, Institut Imagine, F-75 015, Paris, France., Cormier-Daire V; Centre de Référence pour les Maladies Osseuses Constitutionnelles, Fédération de médecine génomique des maladies rares, APHP, Hôpital Necker-Enfants Malades, F-75015 Paris, France valerie.cormier-daire@inserm.fr.; Université Paris Cité, INSERM UMR1163, Institut Imagine, F-75 015, Paris, France.
Jazyk:	angličtina
Zdroj:	Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 109-116. Date of Electronic Publication: 2024 Jan 19.
DOI:	10.1136/jmg-2023-109288
Abstrakt:	Background: Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, brachydactyly and joint limitations. WMS is characterised by specific ophthalmological abnormalities, although cardiovascular defects have also been reported. Monoallelic variations in FBN1 are associated with a dominant form of WMS, while biallelic variations in ADAMTS10 , ADAMTS17 and LTBP2 are responsible for a recessive form of WMS. Objective: Natural history description of WMS and genotype-phenotype correlation establishment. Materials and Methods: Retrospective multicentre study and literature review. Inclusion Criteria: clinical diagnosis of WMS with identified pathogenic variants. Results: 61 patients were included: 18 individuals from our cohort and 43 patients from literature. 21 had variants in ADAMTS17 , 19 in FBN1 , 19 in ADAMTS10 and 2 in LTBP2 . All individuals presented with eye anomalies, mainly spherophakia (42/61) and ectopia lentis (39/61). Short stature was present in 73% (from -2.2 to -5.5 SD), 10/61 individuals had valvulopathy. Regarding FBN1 variants, patients with a variant located in transforming growth factor (TGF)-β-binding protein-like domain 5 (TB5) domain were significantly smaller than patients with FBN1 variant outside TB5 domain (p=0.0040). Conclusion: Apart from the ophthalmological findings, which are mandatory for the diagnosis, the phenotype of WMS seems to be more variable than initially described, partially explained by genotype-phenotype correlation. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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