X‐linked Cataract and Hutchinsonian Teeth

Horan, Margaret; Billson, Frank A.

doi:10.1111/j.1440-1754.1974.tb01098.x

Cited by 38 publications

(56 citation statements)

References 3 publications

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“…Nance-Horan syndrome (NHS) (OMIM: 302350) is a rare X-linked syndrome, first reported in detail by Horan and Billson (1974) and Nance et al (1974). Affected male patients often manifest bilateral congenital dense nuclear cataracts, characteristic dental anomalies, craniofacial abnormalities, and, in some cases, mental retardation (MR) (Toutain et al, 1997;Ding et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Hong

Chen

Xie

et al. 2014

J. Zhejiang Univ. Sci. B

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Abstract:Objective: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Methods: Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. Results: A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. Conclusions: We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.

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Section: Introductionmentioning

confidence: 99%

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Hong

Chen

Xie

et al. 2014

J. Zhejiang Univ. Sci. B

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“…Linkage studies have placed the NHS gene in the Xp22.31-p22.13 region [Stambolian et al, 1990;Zhu et al, 1990;Bergen et al, 1994;Toutain et al, 1997]. Mild or moderate intellectual handicap was mentioned incidentally in seven NHS patients [Horan and Billson, 1974;Van Dorp and Delleman, 1979;Bixler et al, 1984;Lewis, 1989;Walpole et al, 1990]. In their paper, Walpole et al discussed this problem briefly, evaluating the frequency of mental deficiency in NHS at about 20% of cases, but this has not been examined further.…”

Section: Introductionmentioning

confidence: 93%

“…The most recent inventory includes 105 conditions that include MR as a key element and 42 non-specific forms. NanceHoran syndrome (NHS; MIM 302350) or cataractdental syndrome is a rare X-linked condition on which only eight papers with case reports have been published [Nance et al, 1974;Horan and Billson, 1974;Van Dorp and Delleman, 1979;Bixler et al 1984;Seow et al 1985;Lewis, 1989;Walpole et al, 1990;Zhu et al, 1990]. Recently it was recognized as a possible cause of MR [Neri et al, 1994].…”

Section: Introductionmentioning

confidence: 96%

Mental retardation in Nance-Horan syndrome: Clinical and neuropsychological assessment in four families

1997

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Nance-Horan syndrome (NHS) is a rare X-linked condition comprising congenital cataract with microcornea, distinctive dental, and evocative facial anomalies. Intellectual handicap was mentioned in seven published NHS patients. We performed a clinical study focused on psychomotor development, intellectual abilities, and behavior in 13 affected males in four NHS families, and present the results of a neuropsychological evaluation in 7 of them. Our study confirms that mental retardation (MR) can be a major component of the NHS. Combining our data with those from the literature leads to a frequency of MR in NHS of around 30%. In most cases, MR is mild or moderate (80%) and not associated with motor delay. Conversely, a profound mental handicap associated with autistic traits may be observed. MR has intra- and inter-familial variability but does not appear to be expressed in carriers. Awareness of MR in NHS may be of importance in the management of the patients, especially in terms of education. Cloning and characterization of the gene and analysis of mutations will be an important step towards understanding the molecular basis of mental deficiency in NHS, and in delineation from the other XLMR conditions at Xp22.

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“…Nance-Horan syndrome (NHS; MIM 302350), also called cataract-dental syndrome, is a rare X-linked disease first described by Horan and Billson (1974) and Nance et al (1974). The principal features associated with NHS include (1) bilateral congenital cataracts often associated with severe vision loss, microphthalmia and/or microcornea, (2) distinctive dental anomalies including an unusual dental morphology, mainly screwdriver-blade-shaped incisors and supernumerary teeth, (3) characteristic facial features including anteverted pinnae, long face and prominent nasal bridge and nose and (4) mental impairment of varying degrees in some cases.…”

Section: Introductionmentioning

confidence: 98%

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

Walpole¹,

Ronce

Grayson³

et al. 1999

Human Genetics

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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. Recent linkage studies have mapped the NHS disease gene to a 3.5-cM interval on Xp22.2 between DXS1053 and DXS443. We previously identified a human homologue of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected families. 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.

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X‐linked Cataract and Hutchinsonian Teeth

Cited by 38 publications

References 3 publications

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Mental retardation in Nance-Horan syndrome: Clinical and neuropsychological assessment in four families

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

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