Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.

Détails

ID Serval
serval:BIB_774F5E8D78AD
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
Périodique
Clinical Genetics
Auteur(s)
Steichen-Gersdorf E., Gassner I., Superti-Furga A., Ullmann R., Stricker S., Klopocki E., Mundlos S.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
2008
Volume
74
Numéro
6
Pages
560-565
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Résumé
Nievergelt syndrome (NS) is an autosomal dominant mesomelic dysplasia characterized by specific deformities of the radius, ulna, fibula and a rhomboid shape of the tibia. Phenotypically overlapping conditions such as mesomelic dysplasia, Savarirayan-type (MIM 605274), have been described, but their pathogenesis also remains unknown. We report on a girl with fibular agenesis, severely abnormal, triangular tibiae, urogenital tract malformations, failure to thrive, convulsions and recurrent apnoeas leading to respiratory arrest at the age of 4 months. Her skeletal findings correspond to those of the mesomelic dysplasia, Savarirayan-type recently described in two patients. In addition to the skeletal findings, our patient had central nervous system manifestations and developmental anomalies of the urogenital tract. In the patient described in this study, array comparative genomic hybridization (CGH) analysis revealed a de novo interstitial microdeletion of 500 kb on chromosome 2q11.1 containing the LAF4/AFF3 (lymphoid-nuclear-protein-related AF4) gene. In situ hybridization analysis of Laf4 in mouse embryos revealed expression in the developing brain, in the limb buds and in the zeugopod corresponding to the limb phenotype. Haploinsufficiency for LAF4/AFF3 is associated with limb, brain and urogenital malformations and specific changes of the tibia that are part of the NS spectrum.
Mots-clé
Animals, Bone Diseases/genetics, Bone Diseases/radiography, Chromosome Deletion, Chromosomes, Human, Pair 2/genetics, Female, Fibula/abnormalities, Fibula/radiography, Foot Deformities, Congenital/genetics, Gene Expression Regulation, Developmental, Humans, In Situ Hybridization, Infant, Infant, Newborn, Mice, Nuclear Proteins/genetics, Tibia/abnormalities, Tibia/radiography
Pubmed
Web of science
Création de la notice
14/03/2011 17:09
Dernière modification de la notice
03/03/2018 18:27
Données d'usage