NHS gene


Gene (OMIM No.)
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.)
  • X-linked dominant
Ocular features
Systemic featuresNance-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 diagnosisNext generation sequencing
  • Targeted gene panels (MAC/Congenital cataract)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  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
  2.  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
  3.  Francis PJ, Berry V, Hardcastle AJ, et al. A locus for isolated cataract on human Xp. J Med Genet 2002; 39: 105–109
  4.  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
  5.  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
  6.  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
  7.  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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