A novel <i>EDARADD</i> 5′‐splice site mutation resulting in activation of two alternate cryptic 5′‐splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

Chaudhary, Ajay Kumar; Girisha, Katta M.; Bashyam, Murali D.

doi:10.1002/ajmg.a.37607

Cited by 9 publications

(7 citation statements)

References 14 publications

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“…Previously described phenotypes in patients with homozygous variants in EDARADD include sparse hair, peg-shaped teeth, recurrent rhinitis with multiple respiratory infections, and dry, eczematous skin. 6 , 7 Two families have been reported with autosomal dominant, heterozygous mutations in the EDARADD gene. 8 , 9 The variant in our case (p.Leu112Arg) was previously reported in a North African family who had hypotrichosis, hypodontia, and hypohidrosis.…”

Section: Discussionmentioning

confidence: 99%

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines

Dubois¹,

Fostier²,

Sampson³

et al. 2022

JAAD Case Reports

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Section: Discussionmentioning

confidence: 99%

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines

Dubois¹,

Fostier²,

Sampson³

et al. 2022

JAAD Case Reports

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“…Mutations in EDARADD (OMIM * 606603) are associated with autosomal dominant ectodermal dysplasia 11A (MIM# 614940) (Bal et al, 2007;Cluzeau et al, 2011) and autosomal recessive ectodermal dysplasia 11B (MIM# 614941) (Chaudhary et al, 2016). The EDARADD c.413A > T (p.Asn138Ile) variant identified in Patient 5 is located in the death domain that interacts with EDAR.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants

et al. 2020

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Tooth agenesis is one of the most common orodental anomalies that demonstrate phenotypic and genotypic heterogeneity with a prevalence of 2.5%-7%. Mutations in WNT10A have been proposed to be the most common cause of nonsyndromic tooth agenesis (NSTA). The aim of this study was to characterize the dental features and genetic variants of NSTA in a Thai population. We recruited 13 unrelated patients with NSTA who attended the Faculty of Dentistry, Chulalongkorn University, Thailand, from 2017 to 2019. All 13 underwent whole exome sequencing that identified likely pathogenic genetic variants, all in WNT10A, in five patients. All five patients had second premolar agenesis, while three also had absent or peg-shaped upper lateral incisors. Patient 1 possessed a novel heterozygous duplication, c.916_918dupAAC (p.Asn306dup) in WNT10A. Patients 2 and 3 harbored a heterozygous and homozygous c.637G > A (p.Gly213Ser) in WNT10A, respectively. Patients 4 possessed a heterozygous c.511C > T (p.Arg171Cys) in WNT10A. Patient 5 harbored a homozygous c.511C > T (p.Arg171Cys) in WNT10A and a novel heterozygous c.413A > T (p.Asn138Ile) in EDARADD, suggesting digenic inheritance. We recruited another 18 family members of these five patients. Out of 23 participants, homozygous WNT10A variants were identified in 2 patients and heterozygous variants in 17 individuals. Both homozygous patients had NSTA. Eight out of 17 heterozygous individuals (8/17) had NSTA or a peg-shaped lateral incisor, indicating a 47% penetrance of the heterozygous variants or 53% (10/19) penetrance of either homozygous or heterozygous variants in WNT10A. The frequencies of the c.511C > T in our in-house 1,876 Thai exome database, Asian populations, and non-Asian populations were 0.016, 0.005-0.033, and 0.001, respectively; while those of the c.637G > A were 0.016, 0.004-0.029, and 0.000, respectively. In conclusion, our study reports two novel variants with one each in WNT10A and EDARADD, expanding the genotypic spectra of NSTA. Second premolar

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“…On the other hand, the dominant negative mechanism was suggested for mutations with autosomal dominant inheritance because the mutant proteins maintain binding ability to the wild-type, and the possible repressive effect of these mutant proteins on wild-type proteins. 13,14 Determining the exact reason for different modes of inheritance with the same type of mutations in EDARADD is controversial. Although, we suggest there is a threshold for total EDARADD protein function (wild-type and mutant), which needs to be more than one wild-type protein function to prevent the incidence of the disease.…”

Section: Discussmentioning

confidence: 99%

Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review

Haghighi

Kamal

Khamirani

et al. 2023

The Journal of Dermatology

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Pathogenic variants in the EDARADD gene result in autosomal recessive and autosomal dominant ectodermal dysplasia. This article reports on the fourth family in the world with ectodermal dysplasia 11A (ECTD11A) cause from a novel splicing variant in the EDARADD gene, identified by whole exome sequencing and confirmed by Sanger sequencing. The proband and his mother were heterozygous for the detected variant (NM_145861.4:c.161‐2A>T). The proband manifests unusual symptoms including hyperkeratotic plaques, slow‐growing hair, recurrent infection, and pectus excavatum. His mother presents hypohidrosis, extensive tooth decay, fragile nails, and sparse hair. Further studies on ECTD11A patients could be useful to characterizing the phenotype features more precisely.

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A novel EDARADD 5′‐splice site mutation resulting in activation of two alternate cryptic 5′‐splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

Abstract: 2016. A novel EDARADD 5 0 -splice site mutation resulting in activation of two alternate cryptic 5 0 -splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.

Cited by 9 publications

References 14 publications

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines

Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants

Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review

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