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Article

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

Nature genetics - 1 Nov 1997

Quaderi N A, 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

Abstract excerpt

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 inversi...

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Source

Identifiers

PMID: 9354791
DOI: 10.1038/ng1197-285

Genes

MID1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9354791-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.PMID 9354791Read ↗

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

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.Semantic proximity Read ↗

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.Semantic proximity Read ↗

MID1 mutations in patients with X-linked Opitz G/BBB syndrome.Semantic proximity Read ↗

A structure-function study of MID1 mutations associated with a mild Opitz phenotype.Semantic proximity Read ↗

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.Semantic proximity Read ↗

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.Semantic proximity Read ↗

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.Semantic proximity Read ↗

The Opitz syndrome gene product, MID1, associates with microtubules.Semantic proximity Read ↗

The MID1 protein is a central player during development and in disease.Semantic proximity Read ↗

X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.Semantic proximity Read ↗

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.Semantic proximity Read ↗

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