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Article

MID1 mutations in patients with X-linked Opitz G/BBB syndrome.

Human mutation - 1 May 2008

Fontanella Bianca, Russolillo Giorgio, Meroni Germana

Abstract excerpt

Mutations in the MID1 gene are responsible for the X-linked form of Opitz G/BBB syndrome (OS), a disorder that affects the development of midline structures. OS is characterized by hypertelorism, hypospadias, laryngo-tracheo-esophageal (LTE) abnormalities, and additional midline defects. Cardiac, anal, and neurological defects are also present. The expressivity of OS is highly variable, even within the same...

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Source

Identifiers

PMID: 18360914
DOI: 10.1002/humu.20706

Genes

MID1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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MID1 mutations in patients with X-linked Opitz G/BBB syndrome.PMID 18360914Read ↗

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

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

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.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 ↗

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

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

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.Semantic proximity Read ↗

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

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

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

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

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.Semantic proximity Read ↗

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