Identification of a novel frameshift mutation in the <i><scp>EDAR</scp></i> gene causing autosomal dominant hypohidrotic ectodermal dysplasia

Callea, Michele; Willoughby, Colin E.; Nieminen, Pekka; Stazio, Mariateresa Di; Bellacchio, Emanuele; Giglio, Sabrina; Sani, Ilaria; Vinciguerra, A.; Maglione, Michele; Tadini, Gianluca; Clarich, G

doi:10.1111/jdv.12457

Cited by 8 publications

(14 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Patient 14 had an heterozygous de novo EDAR mutation p.F398*, 9 while no mutations were identified in four patients (23%, patients 15-18). Regarding the EDAR p.V370A variant, 5 10 patients (55%) were homozygous CC (seven of them had an EDA mutation), one was TT (6%), and the rest were heterozygous (39%).…”

mentioning

confidence: 98%

PD‐L1 expression and survival among melanoma patients treated with standard immunotherapy or chemotherapy

Steiniche

Danielsen

Wang³

et al. 2017

Acad Dermatol Venereol

View full text Add to dashboard Cite

mentioning

confidence: 98%

PD‐L1 expression and survival among melanoma patients treated with standard immunotherapy or chemotherapy

Steiniche

Danielsen

Wang³

et al. 2017

Acad Dermatol Venereol

View full text Add to dashboard Cite

“…From these dominant mutations, we have focused on a frame‐shift mutation, c.1193_1194delTT, which resides in the last exon of the EDAR gene and is predicted to result in generating a PTC at codon 398 (p.F398*) . The nucleotide deletion c.1193_1194delTT in the EDAR gene has previously been identified in a five‐generation family with HED showing a clear autosomal dominant inheritance pattern, which therefore is a bona fide dominant mutation …”

Section: Introductionmentioning

confidence: 99%

Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia

Okita

Asano

Yasuno

et al. 2019

The Journal of Dermatology

View full text Add to dashboard Cite

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by hypotrichosis, hypohidrosis and hypodontia. The disease shows X‐linked recessive, autosomal dominant or autosomal recessive inheritance traits. The X‐linked form of HED is caused by mutations in the EDA gene, while autosomal forms result from mutations in either EDAR or EDARADD genes. Regarding recessive mutations in the EDAR gene, the pathomechanisms have been well characterized. However, it has remained largely unknown how dominant mutations in the EDAR cause HED. In this study, we performed in vitro analyses for a dominant EDAR gene mutation, p.F398*, as a representative. We showed that the p.F398* mutant EDAR completely lost its affinity to EDARADD, and suppressed the downstream nuclear factor‐κB activation induced by wild‐type EDAR in a dominant‐negative manner. Furthermore, we demonstrated that the mutant EDAR was capable of binding with the wild‐type EDAR, which led to reduced interaction between the wild‐type EDAR and EDARADD. Our findings not only underscore an essential role of the interaction between EDAR and EDARADD in ectodermal development, but also disclose, in part, the molecular basis of autosomal dominant HED.

show abstract

“…Se debe a mutaciones en el gen EDA (OMIM 300451), localizado en Xq12-13.1. 4,5 La DEH con patrón de herencia autosómica dominante (OMIM 129490) es causada por mutaciones en el gen EDAR (OMIM 604095), cuyo locus se encuentra en 2q12.3, y la autosómica recesiva (OMIM 224900), por el gen EDARADD (OMIM 606603), localizado en 1q42-q43. 4,6 a.…”

Section: Introductionunclassified

“…4,5 La DEH con patrón de herencia autosómica dominante (OMIM 129490) es causada por mutaciones en el gen EDAR (OMIM 604095), cuyo locus se encuentra en 2q12.3, y la autosómica recesiva (OMIM 224900), por el gen EDARADD (OMIM 606603), localizado en 1q42-q43. 4,6 a. Unit of Dentistry, Bambino Gesù Children's Hospital, 5 Entre los hallazgos clínicos de la DEH, se encuentran hipodoncia, hipotricosis e hipohidrosis, que pueden llevar a episodios de hipertermia.…”

Section: Introductionunclassified

See 1 more Smart Citation

Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

et al. 2017

View full text Add to dashboard Cite

Presentación de casos clínicos RESUMENLa displasia ectodérmica hipohidrótica (DEH) es una entidad infrecuente caracterizada por deficiencia en el desarrollo de estructuras derivadas del ectodermo y es causada por mutaciones en los genes EDA, EDAR o EDARADD, que pueden exhibir hallazgos clínicos similares, debido a una vía de señalización común. Las mutaciones en el gen EDA causan la DEH ligada al X, que es la forma más frecuente. Por su parte, las mutaciones en los genes EDAR y EDARADD causan la DEH con patrón de herencia autosómica dominante y recesiva. Los hallazgos clínicos más resaltantes son hipodoncia, hipotricosis e hipohidrosis, que pueden llevar a episodios de hipertermia. Se presentan los hallazgos clínicos en un niño con DEH con patrón de herencia autosómica dominante, cuyo análisis molecular demostró mutación heterocigótica c.1072C>TEstudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante ABSTRACTHypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.

show abstract

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

Cited by 8 publications

References 10 publications

PD‐L1 expression and survival among melanoma patients treated with standard immunotherapy or chemotherapy

PD‐L1 expression and survival among melanoma patients treated with standard immunotherapy or chemotherapy

Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia

Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

Contact Info

Product

Resources

About