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Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
J Dermatol. 2015 Jul; 42(7):715-9.JD

Abstract

Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process.

Authors+Show Affiliations

Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.Department of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.Department of Neurology, National Center for Child Health and Development, Tokyo, Japan.Department of Allergy, National Center for Child Health and Development, Tokyo, Japan.Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25913853

Citation

Yoshida, Kazue, et al. "Novel Homozygous Mutation, c.400C>T (p.Arg134*), in the PVRL1 Gene Underlies Cleft Lip/palate-ectodermal Dysplasia Syndrome in an Asian Patient." The Journal of Dermatology, vol. 42, no. 7, 2015, pp. 715-9.
Yoshida K, Hayashi R, Fujita H, et al. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. J Dermatol. 2015;42(7):715-9.
Yoshida, K., Hayashi, R., Fujita, H., Kubota, M., Kondo, M., Shimomura, Y., & Niizeki, H. (2015). Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. The Journal of Dermatology, 42(7), 715-9. https://doi.org/10.1111/1346-8138.12882
Yoshida K, et al. Novel Homozygous Mutation, c.400C>T (p.Arg134*), in the PVRL1 Gene Underlies Cleft Lip/palate-ectodermal Dysplasia Syndrome in an Asian Patient. J Dermatol. 2015;42(7):715-9. PubMed PMID: 25913853.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. AU - Yoshida,Kazue, AU - Hayashi,Ryota, AU - Fujita,Hideki, AU - Kubota,Masaya, AU - Kondo,Mai, AU - Shimomura,Yutaka, AU - Niizeki,Hironori, Y1 - 2015/04/24/ PY - 2014/12/17/received PY - 2015/03/02/accepted PY - 2015/4/28/entrez PY - 2015/4/29/pubmed PY - 2016/12/15/medline KW - PVRL1 KW - adherens junction KW - cleft lip/palate-ectodermal dysplasia syndrome KW - ectodermal dysplasia KW - nectin-1 SP - 715 EP - 9 JF - The Journal of dermatology JO - J Dermatol VL - 42 IS - 7 N2 - Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. SN - 1346-8138 UR - https://wwww.unboundmedicine.com/medline/citation/25913853/Novel_homozygous_mutation_c_400C>T__p_Arg134___in_the_PVRL1_gene_underlies_cleft_lip/palate_ectodermal_dysplasia_syndrome_in_an_Asian_patient_ L2 - https://doi.org/10.1111/1346-8138.12882 DB - PRIME DP - Unbound Medicine ER -