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- Title
IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
- Authors
Brischoux‐Boucher, E.; Trimouille, A.; Baujat, G.; Goldenberg, A.; Schaefer, E.; Guichard, B.; Hannequin, P.; Paternoster, G.; Baer, S.; Cabrol, C.; Weber, E.; Godfrin, G.; Lenoir, M.; Lacombe, D.; Collet, C.; Van Maldergem, L.
- Abstract
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon‐like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig‐like C2‐type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility. A smaller number of teeth anomalies than that previously reported in the two large series of patients evaluated in dental institutes points toward an ascertainment bias.
- Subjects
CRANIOSYNOSTOSES; HUMAN genetics; MISSENSE mutation; INTERLEUKIN-11; CONNECTIVE tissue diseases
- Publication
Clinical Genetics, 2018, Vol 94, Issue 3/4, p373
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13409