Disease relevance of NHS

• Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases [1].

Psychiatry related information on NHS

• Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation [2].

Biological context of NHS

• Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS [1].
• Multipoint linkage analysis determined the NHS locus to be linked completely to DXS41 (lod score = 7.07) [3].
• We performed linkage analysis in three kindreds with NHS by using six RFLP markers between Xp11.3 and Xp22 [3].
• The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus [2].
• The clinical phenotype of the truncating mutation (Q39X) in the NHS gene suggests allelic heterogeneity at the NHS locus or the presence of modifier genes [4].

Anatomical context of NHS

• In the developing mammalian lens, we found continuous expression of NHS that became restricted to the lens epithelium in pre- and postnatal lens [5].
• Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions [5].

Enzymatic interactions of NHS

• RESULTS: Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome [6].

Other interactions of NHS

• Exclusion of RAI2 as the causative gene for Nance-Horan syndrome [1].
• The NHS gene forms a new gene family with a closely related novel gene NHS-Like1 (NHSL1) [7].
• X-linked families with cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome [4].

References