Journal article
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
European Journal of Human Genetics, Vol.24(8), pp.1216-1219
2016
Abstract
CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability. Less severe forms of CHD7-related disease are known to exist, but the full spectrum of phenotypes remains uncertain. We identified a de novo missense variant in CHD7 in a family presenting with musculoskeletal abnormalities as the main manifestation of CHD7-related disease, representing a new phenotype. The proband presented with prominent scapulae, mild shoulder girdle weakness and only subtle dysmorphic features. Investigation revealed hypoplasia of the trapezius and sternocleidomastoid muscles and semicircular canal defects, but he did not fulfill diagnostic criteria for CHARGE syndrome. Although the shoulders are often sloping and anteverted in CHARGE syndrome, the underlying neuromuscular cause has never been investigated. This report expands the phenotypes associated with CHD7 mutations to include a musculoskeletal presentation, with hypoplasia of the shoulder and neck muscles. CHD7 should be considered in patients presenting in childhood with stable scapular winging, particularly if accompanied by dysmorphic features and balance difficulties.
Details
- Title
- Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
- Authors/Creators
- G.L. O'Grady (Author/Creator) - Children's Medical Research InstituteA. Ma (Author/Creator) - The University of SydneyD. Sival (Author/Creator) - University Medical Center GroningenM.T.Y. Wong (Author/Creator) - University Medical Center GroningenT. Peduto (Author/Creator) - Westmead HospitalM.P. Menezes (Author/Creator) - Children's Medical Research InstituteH. Young (Author/Creator) - Children's Medical Research InstituteL. Waddell (Author/Creator) - Children's Medical Research InstituteR. Ghaoui (Author/Creator) - Children's Medical Research InstituteM. Needham (Author/Creator) - Murdoch UniversityM. Lek (Author/Creator) - Children's Medical Research InstituteK.N. North (Author/Creator) - Children's Medical Research InstituteD.G. MacArthur (Author/Creator) - Broad InstituteC.M.A. van Ravenswaaij-Arts (Author/Creator) - University Medical Center GroningenN.F. Clarke (Author/Creator) - Children's Medical Research Institute
- Publication Details
- European Journal of Human Genetics, Vol.24(8), pp.1216-1219
- Publisher
- Nature Publishing Group
- Identifiers
- 991005542115107891
- Copyright
- © 2016 European Society of Human Genetics
- Murdoch Affiliation
- Institute for Immunology and Infectious Diseases
- Language
- English
- Resource Type
- Journal article
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- 1.186 Chromosome Disorders
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