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Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
Am J Med Genet A. 2008 Sep 15; 146A(18):2337-45.AJ

Abstract

Opitz G/BBB syndrome is characterized by midline abnormalities such as hypertelorism, cleft palate, and hypospadias. This syndrome is heterogeneous with an X-linked recessive form caused by mutations in the MID1 gene at band Xp22.3. However, mutations in MID1 have only been identified in 47% of familial cases of X-linked Opitz G/BBB syndrome, and 13% of sporadic cases. We performed a phenotype-genotype analysis of a group of nine new patients with clinical characteristics commonly seen in Opitz G/BBB syndrome, and of previously reported patients. We identified a novel mutation in exon 9 of the MID1 gene, c.1941insTGAGTCATCATCC, leading to a premature termination codon at amino acid 514 in a patient with hypertelorism, apparently low-set ears, a short philtrum, bilateral cleft of lip and palate and hypospadias. This mutation affects the PRY domain of the C-terminus of the MID1 protein.

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Authors+Show Affiliations

Hsieh EW
Department of Pediatrics, Division of Genetics, UCSF School of Medicine, San Francisco, California 94143-0748, USA.
Vargervik K
No affiliation info available
Slavotinek AM
No affiliation info available

MeSH

Abnormalities, MultipleBase SequenceChildChild, PreschoolCleft LipCleft PalateCodon, NonsenseDNA Mutational AnalysisFemaleGenotypeHumansHypertelorismHypospadiasInfantMaleMicrotubule ProteinsNuclear ProteinsOligonucleotide Array Sequence AnalysisPhenotypeSyndromeTranscription FactorsUbiquitin-Protein Ligases

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18697196

Citation

Hsieh, Elena W Y., et al. "Clinical and Molecular Studies of Patients With Characteristics of Opitz G/BBB Syndrome Shows a Novel MID1 Mutation." American Journal of Medical Genetics. Part A, vol. 146A, no. 18, 2008, pp. 2337-45.
Hsieh EW, Vargervik K, Slavotinek AM. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. Am J Med Genet A. 2008;146A(18):2337-45.
Hsieh, E. W., Vargervik, K., & Slavotinek, A. M. (2008). Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. American Journal of Medical Genetics. Part A, 146A(18), 2337-45. https://doi.org/10.1002/ajmg.a.32368
Hsieh EW, Vargervik K, Slavotinek AM. Clinical and Molecular Studies of Patients With Characteristics of Opitz G/BBB Syndrome Shows a Novel MID1 Mutation. Am J Med Genet A. 2008 Sep 15;146A(18):2337-45. PubMed PMID: 18697196.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. AU - Hsieh,Elena W Y, AU - Vargervik,Karin, AU - Slavotinek,Anne M, PY - 2008/8/13/pubmed PY - 2008/9/13/medline PY - 2008/8/13/entrez SP - 2337 EP - 45 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 146A IS - 18 N2 - Opitz G/BBB syndrome is characterized by midline abnormalities such as hypertelorism, cleft palate, and hypospadias. This syndrome is heterogeneous with an X-linked recessive form caused by mutations in the MID1 gene at band Xp22.3. However, mutations in MID1 have only been identified in 47% of familial cases of X-linked Opitz G/BBB syndrome, and 13% of sporadic cases. We performed a phenotype-genotype analysis of a group of nine new patients with clinical characteristics commonly seen in Opitz G/BBB syndrome, and of previously reported patients. We identified a novel mutation in exon 9 of the MID1 gene, c.1941insTGAGTCATCATCC, leading to a premature termination codon at amino acid 514 in a patient with hypertelorism, apparently low-set ears, a short philtrum, bilateral cleft of lip and palate and hypospadias. This mutation affects the PRY domain of the C-terminus of the MID1 protein. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18697196/Clinical_and_molecular_studies_of_patients_with_characteristics_of_Opitz_G/BBB_syndrome_shows_a_novel_MID1_mutation_ L2 - https://doi.org/10.1002/ajmg.a.32368 DB - PRIME DP - Unbound Medicine ER -