A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

O. Ortega-Recalde, M. B. Moreno, J. I. Vergara, D. J. Fonseca, R. F. Rojas, H. Mosquera, C. L. Medina, C. M. Restrepo, P. Laissue

Resultado de la investigación: Contribución a una revistaArtículo

4 Citas (Scopus)

Resumen

© 2015 British Association of Dermatologists.Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations.
Idioma originalInglés estadounidense
Páginas (desde-hasta)757-760
Número de páginas4
PublicaciónClinical and Experimental Dermatology
DOI
EstadoPublicada - oct 1 2015

Huella dactilar

Ichthyosis
Mutation
Lamellar Ichthyosis
Congenital Ichthyosiform Erythroderma
RNA Splice Sites
Genetic Counseling
Genetic Association Studies
Introns
Exons
Phenotype
Skin

Citar esto

Ortega-Recalde, O. ; Moreno, M. B. ; Vergara, J. I. ; Fonseca, D. J. ; Rojas, R. F. ; Mosquera, H. ; Medina, C. L. ; Restrepo, C. M. ; Laissue, P. / A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. En: Clinical and Experimental Dermatology. 2015 ; pp. 757-760.
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abstract = "{\circledC} 2015 British Association of Dermatologists.Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50{\%} of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations.",
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A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. / Ortega-Recalde, O.; Moreno, M. B.; Vergara, J. I.; Fonseca, D. J.; Rojas, R. F.; Mosquera, H.; Medina, C. L.; Restrepo, C. M.; Laissue, P.

En: Clinical and Experimental Dermatology, 01.10.2015, p. 757-760.

Resultado de la investigación: Contribución a una revistaArtículo

TY - JOUR

T1 - A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

AU - Ortega-Recalde, O.

AU - Moreno, M. B.

AU - Vergara, J. I.

AU - Fonseca, D. J.

AU - Rojas, R. F.

AU - Mosquera, H.

AU - Medina, C. L.

AU - Restrepo, C. M.

AU - Laissue, P.

PY - 2015/10/1

Y1 - 2015/10/1

N2 - © 2015 British Association of Dermatologists.Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations.

AB - © 2015 British Association of Dermatologists.Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations.

U2 - 10.1111/ced.12627

DO - 10.1111/ced.12627

M3 - Article

C2 - 25754682

SP - 757

EP - 760

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

SN - 0307-6938

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