Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.

Détails

ID Serval
serval:BIB_194EA325CA25
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
Périodique
American journal of medical genetics. Part A
Auteur⸱e⸱s
Garavelli L., Wischmeijer A., Rosato S., Gelmini C., Reverberi S., Sassi S., Ferrari A., Mari F., Zabel B., Lausch E., Unger S., Superti-Furga A.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
02/2011
Peer-reviewed
Oui
Volume
155A
Numéro
2
Pages
332-336
Langue
anglais
Notes
Publication types: Case Reports ; Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
The Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) and the Fuhrmann syndrome (FS; OMIM 228930) are distinct limb malformation disorders comprising different degrees of limb aplasia or hypoplasia. In 2006, Woods et al. found different recessive WNT7A mutations in one family segregating the AARRS phenotype and in a second family with FS. To explain the common genetic basis for the two clinically distinct disorders, functional studies were done showing that partial loss of WNT7A function resulted in FS, while complete loss of WNT7A function resulted in the more severe phenotype of AARRS. In spite of the elucidation of the molecular basis of AARRS, there remains to this day considerable diagnostic confusion that has culminated in the lumping of Schinzel phocomelia syndrome with AARRS; however, this phocomelic limb defect is quite different in its clinical aspect and pathogenesis from the limb findings of AARRS. Here, we report on a child with the AARRS phenotype and homozygosity for a non-conservative E72K mutation in WNT7A, underline the homogeneity of the WNT7A-associated AARRS phenotype, and propose differential diagnostic criteria for the AARRS reflecting the roles of WNT7A in limb development.
Mots-clé
Abnormalities, Multiple/classification, Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Amino Acid Sequence, Base Sequence, Diagnosis, Differential, Female, Foot Deformities, Congenital/diagnosis, Foot Deformities, Congenital/genetics, Foot Deformities, Congenital/pathology, Hand Deformities, Congenital/diagnosis, Hand Deformities, Congenital/genetics, Hand Deformities, Congenital/pathology, Humans, Infant, Limb Deformities, Congenital/pathology, Male, Molecular Sequence Data, Mutation, Missense, Pelvis/abnormalities, Phenotype, Sequence Analysis, DNA, Syndrome, Uterus/abnormalities, Wnt Proteins/genetics
Pubmed
Web of science
Création de la notice
15/03/2011 15:45
Dernière modification de la notice
07/05/2024 7:17
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