The Nance-Horan syndrome.

Walpole, Ian; Hockey, Amanda Jane.; Nicoll, Alan

doi:10.1136/jmg.27.10.632

Cited by 42 publications

(50 citation statements)

References 4 publications

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“…In this region, only the NHS gene is expressed in the eye (lens and retina), 4 and its' mutation was described leading to X-linked congenital cataract. 5 These findings confirm that the novel missense mutation P551S, identified for the first time, contributed alone or in conjunction with the novel 3¢UTR-SNP c. 8239T4A to the mild NHS phenotype in our patients.…”

Section: Discussionsupporting

confidence: 89%

“…12 NHS protein is involved in the regulation of actin remodeling and cell morphology. 11 Moreover, it is of importance in the limbic system, NHS protein which is of interest, given the range of neuropsychological abnormalities, including MR, autism, aggression, anxiety, stereotypical behavior and mood disturbance 2,5 reported in some males affected with NHS and present in our studied patients.…”

Section: Introductionmentioning

confidence: 75%

“…4 Ophthalmological findings in affected males include bilateral severe congenital cataract involving the fetal nucleus and posterior Y suture, with variable zonular extensions into the posterior cortex. [5][6][7][8] Heterozygous females often manifest similar, but less severe features than affected males. 5,9 Approximately 30% of affected males display MR and behavioral disturbance.…”

Section: Introductionmentioning

confidence: 99%

“…[5][6][7][8] Heterozygous females often manifest similar, but less severe features than affected males. 5,9 Approximately 30% of affected males display MR and behavioral disturbance. 2,5 NHS was mapped to Xp21.1-p22.3 7,8 and, more recently, was refined to a critical region of 1.3 Mb between STR markers DXS1195 and DXS999.…”

Section: Introductionmentioning

confidence: 99%

“…5,9 Approximately 30% of affected males display MR and behavioral disturbance. 2,5 NHS was mapped to Xp21.1-p22.3 7,8 and, more recently, was refined to a critical region of 1.3 Mb between STR markers DXS1195 and DXS999. 9 We have independently confirmed the genetic interval Xp22.32-p11.…”

Section: Introductionmentioning

confidence: 99%

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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Chograni¹,

Rejeb²,

Jemaa

et al. 2011

Eur J Hum Genet

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Section: Discussionsupporting

confidence: 89%

Section: Introductionmentioning

confidence: 75%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Chograni¹,

Rejeb²,

Jemaa

et al. 2011

Eur J Hum Genet

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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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Syndromes with supernumerary teeth

Lubinsky

Kantaputra

2016

American J of Med Genetics Pt A

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While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein–Taybi syndrome; Nance–Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg–Pakistani syndrome (craniosynostosis and dental anomalies), and insulin‐resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann–Streiff syndrome, Fabry disease, Ehlers–Danlos syndrome, Apert and Crouzon syndromes, Zimmermann–Laband syndrome, and Ellis–van Creveld syndrome. © 2016 Wiley Periodicals, Inc.

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The Nance-Horan syndrome.

Cited by 42 publications

References 4 publications

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

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

Syndromes with supernumerary teeth

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