RIN2 syndrome: Expanding the clinical phenotype
Rattachement africain : be, it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. The condition was initially termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis), based on the clinical features of the first identified family; however, with the expansion of the clinical phenotype in additional families, it was subsequently coined RIN2 syndrome. Hallmark features of this condition include dysmorphic facial features with striking, progressive facial coarsening, sparse hair, normal to enlarged occipitofrontal circumference, soft redundant and/or hyperextensible skin, and scoliosis. Patients with RIN2 syndrome present phenotypic overlap with other conditions, including EDS (especially the dermatosparaxis and kyphoscoliosis subtypes). Here, we describe a 10th patient, the first patient of Caucasian origin and the oldest reported patient so far, who harbors the previously identified homozygous RIN2 mutation c.1878dupC (p. (Ile627Hisfs*7)). Besides the hallmark features, this patient also presents problems not previously associated with RIN2 syndrome, including cervical vertebral fusion, mild hearing loss, and colonic fibrosis. We provide an overview of the clinical findings in all reported patients with RIN2 mutations and summarize some of the possible pathogenic mechanisms that may underlie this condition. © 2016 Wiley Periodicals, Inc.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- RIN2 syndrome: Expanding the clinical phenotype
- Date Crossref
- 08/06/2016
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Ghent University Hospital pays non établi dans la noticeÉtablissement de santé
-
University of Modena and Reggio Emilia Department of Surgical pays non établi dans la noticeUniversité ou école supérieure
-
Ospedale Santa Maria pays non établi dans la noticeÉtablissement de santé
-
Istituti di Ricovero e Cura a Carattere Scientifico pays non établi dans la noticeÉtablissement de santé
-
Clinical Genetics Unit Department of Obstetrics and Pediatrics pays non établi dans la noticeÉtablissement de santé
-
Anatomic Pathology Unit Arcispedale Santa Maria Nuova‐IRCCS Reggio Emilia Italy pays non établi dans la noticeInstitution
-
Department of Internal Medicine Arcispedale Santa Maria Nuova‐IRCCS Reggio Emilia Italy pays non établi dans la noticeInstitution
Ghent University Hospital, Department of Surgical — University of Modena and Reggio Emilia et Ospedale Santa Maria, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.