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PMID: 9354791 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Nature genetics ·Vol. 17 ·No. 3 ·1997-11-00 ·Pages 285-91

Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A

Abstract

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.

MeSH Terms

Abnormalities, Multiple/genetics Amino Acid Sequence Animals Child, Preschool Chromosome Inversion Cleft Lip/genetics Cloning, Molecular Deglutition Disorders/genetics Female Gene Expression Regulation, Developmental Humans Hypertelorism/genetics Hypospadias/genetics In Situ Hybridization Male Mice Microtubule Proteins Molecular Sequence Data Mutation Nuclear Proteins Tissue Distribution Transcription Factors/genetics,metabolism Ubiquitin-Protein Ligases X Chromosome

Chemicals

Microtubule Proteins Nuclear Proteins Transcription Factors Mid1 protein, human Ubiquitin-Protein Ligases

Authors & Affiliations

16 authors, click to expand affiliations / ORCID

Quaderi N A

Telethon Institute of Genetics and Medicine (TIGEM), Milan, Italy.

Schweiger S

Gaudenz K

Franco B

Rugarli E I

Berger W

Feldman G J

Volta M

Andolfi G

Gilgenkrantz S

Marion R W

Hennekam R C

Opitz J M

Muenke M

Ropers H H

Ballabio A

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng1197-285

Published

1997-11-00

Pages

285-91

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

Telethon · TGM06S01 · Italy

Telethon · TGM97000 · Italy

NICHD NIH HHS · R01HD29862 · United States

NICHD NIH HHS · R29HD28732 · United States

Databases

GENBANK

Y13667

External Links

PubMed source DOI: 10.1038/ng1197-285 View journal details

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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

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