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A gene for Meckel syndrome maps to chromosome 11q13.

Abstract：

:Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. Studying a subset of Middle Eastern and northern African MKS families, we have recently excluded the chromosome 17 region and have suggested a genetic heterogeneity. In the present study, we report on the mapping of a second MKS locus (MKS2) to chromosome 11q13, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01). Most interestingly, the affected fetuses of southern Tunisian ancestry shared a particular haplotype at loci D11S911 and D11S906, suggesting that a founder effect is involved. Our observation gives support to the clinical and genetic heterogeneity of MKS.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Roume J,Genin E,Cormier-Daire V,Ma HW,Mehaye B,Attie T,Razavi-Encha F,Fallet-Bianco C,Buenerd A,Clerget-Darpoux F,Munnich A,Le Merrer M

doi

10.1086/302062

subject

Has Abstract

pub_date

1998-10-01 00:00:00

pages

1095-101

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61801-1

journal_volume

63

pub_type

杂志文章

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