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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Abstract：

:Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human connexin 43 gene, or GJA1, is located at human chromosome 6q22-q23 within the candidate region for the oculodentodigital dysplasia locus. This autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances. We found mutations in the GJA1 gene in all 17 families with oculodentodigital dysplasia that we screened. Sixteen different missense mutations and one codon duplication were detected. These mutations may cause misassembly of channels or alter channel conduction properties. Expression patterns and phenotypic features of gja1 animal mutants, reported elsewhere, are compatible with the pleiotropic clinical presentation of oculodentodigital dysplasia.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Paznekas WA,Boyadjiev SA,Shapiro RE,Daniels O,Wollnik B,Keegan CE,Innis JW,Dinulos MB,Christian C,Hannibal MC,Jabs EW

doi

10.1086/346090

subject

Has Abstract

pub_date

2003-02-01 00:00:00

pages

408-18

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60549-7

journal_volume

72

pub_type

杂志文章

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