Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features |
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Systemic features | Bosma arhinia microphthalmia syndrome:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
Additional information
It has been suggested by Shaw et al that pathogenic variants in SMCHD1 is not fully penetrant, resulting in marked intra- and interfamilial phenotypic variability.
References
- Blewitt ME, Gendrel AV, Pang Z, et al. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat Genet. 2008;40(5):663‐669
- Graham JM Jr, Lee J. Bosma arhinia microphthalmia syndrome. Am J Med Genet A. 2006;140(2):189‐193
- Lemmers RJ, Tawil R, Petek LM, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012;44(12):1370‐1374
- Shaw ND, Brand H, Kupchinsky ZA, et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome [published correction appears in Nat Genet. 2017 May 26;49(6):969]. Nat Genet. 2017;49(2):238-248