Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22, MID1 (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MID1 encodes a member of the B-box family of proteins, which contain protein-protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MID1 with OS suggests an important role for this gene in midline development.
Quaderi
N A
NA
Telethon Institute of Genetics and Medicine (TIGEM), Milan, Italy.
Schweiger
S
S
Gaudenz
K
K
Franco
B
B
Rugarli
E I
EI
Berger
W
W
Feldman
G J
GJ
Volta
M
M
Andolfi
G
G
Gilgenkrantz
S
S
Marion
R W
RW
Hennekam
R C
RC
Opitz
J M
JM
Muenke
M
M
Ropers
H H
HH
Ballabio
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D002675:Child, Preschool; D007446:Chromosome Inversion; D002971:Cleft Lip / Q000235:genetics; D003001:Cloning, Molecular; D003680:Deglutition Disorders / Q000235:genetics; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007021:Hypospadias / Q000235:genetics; D017403:In Situ Hybridization; D008297:Male; D051379:Mice; D008868:Microtubule Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D014018:Tissue Distribution; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases; D014960:X Chromosome
D008868:Microtubule Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C109052:MID1 protein, human; D044767:Ubiquitin-Protein Ligases