A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

Bashyam, Murali D.; Chaudhary, Ajay Kumar; Reddy, E. Chandrakanth; Reddy, Vikram S.; Acharya, Vishal; Nagarajaram, Hampapathalu A.; Devi, A. Radha Rama; Bashyam, Leena; Dalal, Ashwin; Gupta, Neerja; Kabra, Madhulika; Agarwal, Meenal; Phadke, Shubha R.; Tainwala, Ram; Kumar, Ravi; Hariharan, Sankar Vaikom

doi:10.1111/j.1365-2133.2011.10707.x

Cited by 19 publications

(30 citation statements)

References 34 publications

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“…1b). This is the first and only AD-HED family reported from India and symptoms in the affected proband and proband's father were clearly less severe when compared to the AR-HED families reported here and earlier, 6 especially with respect to scalp hair and teeth as suggested previously. Proband's father exhibited similar symptoms including sparse hair and dental caries (Fig.…”

supporting

confidence: 73%

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Chaudhary

Mohapatra²,

Nagarajaram³

et al. 2016

Acad Dermatol Venereol

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supporting

confidence: 73%

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Chaudhary

Mohapatra²,

Nagarajaram³

et al. 2016

Acad Dermatol Venereol

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“…Taken together, these analyses strongly suggest the EDAR p.L397H mutation to be the cause of HED in family 1. This is the first and only AD-HED family reported from India and symptoms in the affected proband and proband's father were clearly less severe when compared to the AR-HED families reported here and earlier, 6 especially with respect to scalp hair and teeth as suggested previously. [7][8][9] EDAR mutation screening was performed in the other three probands and the p.G382S mutation was detected in all three (Families 2, 3, and 4 in Table 1).…”

supporting

confidence: 73%

Results of patch testing in Indonesian shoe factory workers

Oosterhaven

Febriana

Soebono

et al. 2016

Acad Dermatol Venereol

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References1 Febriana SA, Soebono H, Coenraads PJ. Occupational skin hazards and prevalence of occupational skin diseases in shoe manufacturing workers in Indonesia. Int Arch Occup Environ Health 2014; 87: 185-194. 2 Mathias CG. Contact dermatitis and workers' compensation: criteria for establishing occupational causation and aggravation. J Am Acad Dermatol 1989; 20: 842-848. 3 Ale IS, Maibach HI. Diagnostic approach in allergic and irritant contact dermatitis. Expert Rev Clin Immunol 2010; 6: 291-310. 4 Diepgen TL, Sauerbrei W, Fartasch M. Development and validation of diagnostic scores for atopic dermatitis incorporating criteria of data quality and practical usefulness.

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“…S1); all mutant residues were however significantly disfavored than the respective wild‐type residues (Table ). HANSA , a web‐server based classifier of missense mutations predicted 136L as ‘neutral’, 198A as borderline and all other mutant residues as ‘disease’ (Table ).…”

Section: Resultsmentioning

confidence: 99%

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

et al. 2013

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Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In the largest ever study, we identified and characterized ASAH1 mutations from 11 independent Farber disease (FD) families. A total of 13 different mutations were identified including 1 splice, 1 polypyrimidine tract (PPT) deletion and 11 missense mutations. Eleven mutations were exclusive to the Indian population. The IVS6+4A>G splice and IVS5-16delTTTTC PPT deletion mutations resulted in skipping of exon 6 precluding thereby the region responsible for cleavage of enzyme precursor. A missense mutation (p.V198A) resulted in skipping of exon 8 due to inactivation of an exonic splicing enhancer (ESE) element. This is the first report of mutations affecting PPT and ESE in the ASAH1 gene resulting in FD.

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A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

Abstract: This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED.

Cited by 19 publications

References 34 publications

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Results of patch testing in Indonesian shoe factory workers

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

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