Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia

Pinheiro, Marta; Freire‐Maia, N.

doi:10.1590/s0100-84551996000400019

Cited by 4 publications

(2 citation statements)

References 4 publications

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“…Nail dystrophy affects all twenty digits by causing short fragile nails or spoon nails (koilonychias). At least five clinical forms of PHNED with unique manifestations have been described [3][4][5][6][7][8] with either autosomal-recessive or autosomal-dominant patterns of inheritance. In 2006, Naeem and colleagues performed linkage analysis in a consanguineous Pakistani family affected by PHNED and mapped the locus to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC gene clusters.…”

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confidence: 99%

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Lin

Chen

Shi

et al. 2012

The American Journal of Human Genetics

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Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.

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confidence: 99%

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Lin

Chen

Shi

et al. 2012

The American Journal of Human Genetics

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“…Les dysplasies ectodermiques (DE) sont des maladies génétiques le plus souvent héréditaires [ 1 – 3 ]. Il s’agit d’un groupe large et hétérogène de maladies rares.…”

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La dyspasie ectodermique anhydrotique : à propos d’un cas au Centre Mère et Enfant de la Foundation Chantal Biya, Youndé, Cameroun

Chelo¹,

Mina²,

Monebenimp³

et al. 2010

Pan Afr Med Jrnl

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Ectodermal dysplasia are rare genetic diseases characterized by the absence or dysplasia of some tissues of ectodermal origin. We present a case of a young boy seen at the age of seven and a half years for late eruption of teeth, morphologic abnormalities of the teeth and a feeling of exaggerated heat. The diagnosis of anhidrotic ectodermal dysplasia was discussed. The absence of sweat glands on the skin biopsy slides was in favor of the diagnosis. Dental prostheses were put in place which the aim of permitting the child to eat normally and have a better self image.

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Ectodermal dysplasias: Clinical and molecular review

Visinoni

Lisboa‐Costa

Pagnan

et al. 2009

American J of Med Genetics Pt A

149

100

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Ectodermal dysplasias (EDs) as defined by Freire-Maia [FreireMaia (1971); Hum Hered 21: 309-312; ; Acta Genet Med Gemellol 26: 121-131] are congenital disorders characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands. Suggestions for a new definition and, consequently, for a new classification of EDs have being proposed lately, mainly with the purpose of connecting clinical knowledge with recent discoveries of gene mutations responsible for about 30% of EDs. The aim of this review was to update the clinical classification of EDs with recent molecular (64 genes and 3 chromosome regions) and clinical data, mainly of EDs of the A group (N ¼ 186), in order to contribute information for the evaluation of the ED definition proposed by Freire-Maia. Our conclusion is that the combination of both procedures-clinical and molecular-only brings advantages for a deeper knowledge of EDs. First, it allows a rapid diagnosis that may become even more precise whenever DNA exams are available. Secondly, the comprehension of the biological mechanisms that cause EDs is needed for the design of efficient prevention and treatment approaches.

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Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia

Cited by 4 publications

References 4 publications

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

La dyspasie ectodermique anhydrotique : à propos d’un cas au Centre Mère et Enfant de la Foundation Chantal Biya, Youndé, Cameroun

Ectodermal dysplasias: Clinical and molecular review

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