Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
K Suzuki, D Hu, T Bustos, J Zlotogora… - Nature …, 2000 - nature.com
K Suzuki, D Hu, T Bustos, J Zlotogora, A Richieri-Costa, JA Helms, RA Spritz
Nature genetics, 2000•nature.comCleft lip, with or without cleft palate (CL/P), is one of the most common birth defects,
occurring in 0.4 to 2.0 per 1,000 infants born alive 1. Approximately 70% of CL/P cases are
non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each
affecting a protein critical for orofacial development. Here we describe positional cloning of
the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome
(CLPED1; previously ED4; ref. 2), which we identify as PVRL1, encoding nectin-1, an …
occurring in 0.4 to 2.0 per 1,000 infants born alive 1. Approximately 70% of CL/P cases are
non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each
affecting a protein critical for orofacial development. Here we describe positional cloning of
the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome
(CLPED1; previously ED4; ref. 2), which we identify as PVRL1, encoding nectin-1, an …
Abstract
Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive 1. Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each affecting a protein critical for orofacial development. Here we describe positional cloning of the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1; previously ED4; ref. 2), which we identify as PVRL1, encoding nectin-1, an immunoglobulin (Ig)-related transmembrane cell-cell adhesion molecule that is part of the NAP cell adhesion system 3, 4, 5, 6. Nectin-1 is also the principal cell surface receptor for α-herpesviruses (HveC; ref. 7), and the high frequency of CLPED1 on Margarita Island in the Caribbean Sea might result from resistance of heterozygotes to infection by these viruses.
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