NHS gene

Overview
Microphthalmia, anophthalmia, coloboma (MAC)
Congenital cataracts
References

Overview

Gene (OMIM No.)	NHS (#300457)
Function of gene/protein	Protein: NHS actin remodeling regulator Maintains cell structure by regulating formation of molecules in the cytoskeleton Important for development of the brain and craniofacial structures including the eye
Clinical phenotype (OMIM phenotype no.)	Nance-Horan syndrome (#302350) Cataract 40 (#302200)
Inheritance	X-linked dominant
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum Microcornea Congenital cataracts Female carriers display a characteristic posterior Y-suture-centred lens opacities of variable severity
Systemic features	Nance-Horan syndrome Dental anomalies (including supernumerary incisors, crown shaped permanent teeth) Facial dysmorphism (including anteverted pinnae, long face, prominent nasal bridge and nose) Variable degree of facial dysmorphism among female carriers Intellectual disability in some affected male patients Cataract 40 Less common phenotype Congenital heart defects (patent ductus arteriosus, tetralogy of Fallot, ventriculoseptal defect and stenosis of a major cardiac vessel)
Key investigations	Examination of other family members to identify the characteristic posterior Y-suture lens opacities in female carriers which can direct genetic testing B-scan USS to measure axial length to document microphthalmia Electrophysiology Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (MAC/Congenital cataract) Whole genome sequencing
Management	Ocular Management of MAC Management of congenital cataract Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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References

Brooks SP, Coccia M, Tang HR, et al. The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. Hum Mol Genet 2010; 19: 2421–2432
Van Esch H, Jansen A, Bauters M, et al. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet Part A 2007; 143A: 364–369
Francis PJ, Berry V, Hardcastle AJ, et al. A locus for isolated cataract on human Xp. J Med Genet 2002; 39: 105–109
Coccia M, Brooks SP, Webb TR, et al. X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 2009;18(14):2643-2655
Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ. Identification of the gene for Nance-Horan syndrome (NHS). J Med Genet. 2004;41(10):768-771
Burdon KP, McKay JD, Sale MM, et al. Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation. Am J Hum Genet 2003; 73: 1120–1130
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). Ophthalmic Genet. 2012;33(2):89-95

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Updated on November 30, 2020

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