X-Chromosomal-Linked Sutural Cataracts

Krill, Alex E.; Woodbury, George W.; Bowman, James E.

doi:10.1016/0002-9394(69)94582-6

Cited by 37 publications

(15 citation statements)

References 6 publications

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“…Non-syndromic X-linked congenital cataract is characterized by bilateral total nuclear cataract in affected males and Y-sutural opacities in carrier females (19–22). Early studies reported linkage with the Xg blood group on Xp22 (20).…”

Section: Introductionmentioning

confidence: 99%

X-linked cataract and Nance-Horan syndrome are allelic disorders

Coccia¹,

Brooks²,

Webb³

et al. 2009

Human Molecular Genetics

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Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously mapped X-linked congenital cataract (CXN) in one family to an interval on chromosome Xp22.13 which encompasses the NHS locus; however, no mutations were identified in the NHS gene. In this study, we show that NHS and X-linked cataract are allelic diseases. Two CXN families, which were negative for mutations in the NHS gene, were further analysed using array comparative genomic hybridization. CXN was found to be caused by novel copy number variations: a complex duplication–triplication re-arrangement and an intragenic deletion, predicted to result in altered transcriptional regulation of the NHS gene. Furthermore, we also describe the clinical and molecular analysis of seven families diagnosed with NHS, identifying four novel protein truncation mutations and a novel large deletion encompassing the majority of the NHS gene, all leading to no functional protein. We therefore show that different mechanisms, aberrant transcription of the NHS gene or no functional NHS protein, lead to different diseases. Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved.

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Section: Introductionmentioning

confidence: 99%

X-linked cataract and Nance-Horan syndrome are allelic disorders

Coccia¹,

Brooks²,

Webb³

et al. 2009

Human Molecular Genetics

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“…Although visual acuity was not mentioned, nystagmus was present in at least one male and esotropia in at least four males in the family. Krill8 described in 1969 a family of X-linked cataract in which one of the affected males also exhibited microcornea and mental deficiency. The female carriers had posterior Y-sutural opacities without any effect on vision.…”

Section: Introductionmentioning

confidence: 99%

Ophthalmic Pathology of Nance-Horan Syndrome: Case Report and Review of the Literature

Ding

Patel

Herzlich

et al. 2009

Ophthalmic Genetics

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“…22 Autosomal dominant inheritance is the most common (Fig. [23][24][25] A substantial amount of genetic heterogeneity exists in inherited cataracts, both locus and allelic. [23][24][25] A substantial amount of genetic heterogeneity exists in inherited cataracts, both locus and allelic.…”

Section: Geneticsmentioning

confidence: 99%