New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

Human Molecular Genetics

Volumn 9, Issue 17, 2000, Pages 2553-2562

  Cox, Timothy C ^a,c   Allen, Lillian R ^a   Cox, Liza L ^a   Hopwood, Blair ^a   Goodwin, Bruce ^b   Haan, Eric ^c   Suthers, Graeme K ^c  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MICROTUBULE ASSOCIATED PROTEIN 1;

5' UNTRANSLATED REGION; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; CYTOPLASM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DISTANCE; HUMAN; MALE; MALFORMATION SYNDROME; MICROTUBULE; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN LOCALIZATION; SITE DIRECTED MUTAGENESIS; SMITH LEMLI OPITZ SYNDROME; X CHROMOSOME LINKAGE;

EID: 0034641894     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.17.2553     Document Type: Article

References (23)

1. Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature
2. G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or Opitz-Frias or Opitz-G syndrome)-perspective in 1987 and bibliography
3. Apparent Opitz BBBG syndrome with a partial duplication of 5p
4. Opitz GBBB syndrome: Chromosomal evidence of an X-linked form
5. Distal deletion of chromosome 13 in a child with the Opitz GBBB syndrome
6. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
7. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
8. Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain
9. The Opitz syndrome gene product, MID1, associates with microtubules
10. The human FXY gene is located within Xp22.3: Implications for evolution of the mammalian X chromosome
11. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22
12. Functional characterization of the Opitz syndrome gene product (midin): Evidence for homodimerization and association with microtubules throughout the cell cycle
13. FXY2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein which associates with microtubules
14. Autosomal dominant Opitz GBBB syndrome due to a 22q11.2 deletion
15. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
16. Opitz GBBB syndrome and the 22q11.2 deletion
17. Nomenclature Working Group Recommendations for a nomenclature system for human gene mutations
18. Molecular characterisation of a new case of Microphthalmia with Linear Skin defects (MLS): Implications for the molecular and clinical classification of the syndrome
19. MID2, a homologue of the Opitz syndrome gene MID1: Similarities in subcellular localization and differences in expression during development
20. A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region
21. A rapid procedure for extracting genomic DNA from leukocytes
22. Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia