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

Abstract

Opitz G/BBB syndrome is a genetically heterogeneous condition, with both autosomal dominant and X-linked forms. The MID1 gene is associated with X-linked Opitz G/BBB syndrome. Most mutations identified are unique, which makes it difficult to assess possible genotype/phenotype correlations. We report on a familial c.1102C>T (p.R368X) mutation in the MID1 gene, previously reported by Cox et al. (Hum Mol Genet 9:2553-2562, 2000), and document it as a recurrent mutation causing Opitz G/BBB syndrome. This mutation may result in various midline defects, including cleft lip/palate, laryngeal cleft, hypertelorism, Dandy-Walker malformation, ventricular septal defect and hypospadias in male patients, with intrafamilial variability. Seven other mutations (c.712G>T, c.829C>T, c.1108A>G, c.1444_1447dupAACA, c.1483C>T, c.1798dupC and entire gene deletions) have been previously reported as recurrent mutations. The presented family with the c.1102C>T mutation provides additional information about the clinical consequences of the nonsense mutation causing premature truncation of the protein at the level of the COS domain.

• Authors: Egle Preiksaitiene, Natalija Krasovskaja, Algirdas Utkus, Jurate Kasnauskiene, Raimonda Meškienė, Iveta Paulauskiene, Nomeda R Valevičienė, Vaidutis Kučinskas
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 24 Issue 1 Pg. 7-12 (Jan 2015) ISSN: 1473-5717 [Electronic] England
• PMID: 25304119 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Microtubule Proteins
• Nuclear Proteins
• Transcription Factors
• MID1 protein, human
• Ubiquitin-Protein Ligases

Topics

• Adult
• Amino Acid Substitution
• Child
• Esophagus (abnormalities)
• Female
• Genetic Diseases, X-Linked (genetics)
• Humans
• Hypertelorism (genetics)
• Hypospadias (genetics)
• Magnetic Resonance Imaging
• Male
• Microtubule Proteins (genetics)
• Mutation (genetics)
• Nuclear Proteins (genetics)
• Pedigree
• Transcription Factors (genetics)
• Ubiquitin-Protein Ligases