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Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

Abstract：

:The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene structure of the MID1 gene and have analyzed all nine exons for mutations in a set of 40 unrelated Opitz G/BBB patients. We now report six additional mutations all clustered in the carboxy-terminal domain of the MID1 protein. These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Gaudenz K,Roessler E,Quaderi N,Franco B,Feldman G,Gasser DL,Wittwer B,Horst J,Montini E,Opitz JM,Ballabio A,Muenke M

doi

10.1086/302010

subject

Has Abstract

pub_date

1998-09-01 00:00:00

pages

703-10

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61371-8

journal_volume

63

pub_type

杂志文章

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