Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Kumar, Ravinesh A ^a   Everman, David B ^b   Morgan, Chad T ^b   Slavotinek, Anne ^c   Schwartz, Charles E ^b   Simpson, Elizabeth M ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b GREENWOOD GENETIC CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS RECEPTOR; NUCLEAR RECEPTOR 2E1; PROTEASE NEXIN; SORTING NEXIN 3 PROTEIN; UNCLASSIFIED DRUG; CELL RECEPTOR; NR2E1 PROTEIN, HUMAN; SNX3 PROTEIN, HUMAN; VESICULAR TRANSPORT PROTEIN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; APLASIA; ARTICLE; BRAIN MALFORMATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; ECTRODACTYLY; FEMALE; FINGER MALFORMATION; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MICROCEPHALY; MICROPHTHALMIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PROGNATHIA; PROMOTER REGION; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; CASE REPORT; CHILD; CHROMOSOME 6; CODON; DNA SEQUENCE; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PHENOTYPE; PHOCOMELIA; REGULATORY SEQUENCE; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 6; CODON; ECTROMELIA; FEMALE; HUMANS; MALE; MICROCEPHALY; MICROPHTHALMOS; MUTATION; PHENOTYPE; PROGNATHISM; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REGULATORY SEQUENCES, NUCLEIC ACID; SEQUENCE ANALYSIS, DNA; SYNDROME; VESICULAR TRANSPORT PROTEINS;

EID: 34548072548     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-48     Document Type: Article

References (18)

1. Duijf PH van Bokhoven H Brunner HG Pathogenesis of split-hand/split-foot malformation Hum Mol Genet 2003 12 Spec No 1 R5- 60 10.1093/hmg/ddg090 12668597
2. Xu Y Hortsman H Seet L Wong SH Hong W SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P Nature cell biology 2001 3 7 658-666 10.1038/35083051 11433298
3. Vervoort VS Viljoen D Smart R Suthers G DuPont BR Abbott A Schwartz CE Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype Journal of medical genetics 2002 39 12 893-899 10.1136/jmg.39.12.893 12471201
4. Suthers G Morris L A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP) Clinical dysmorphology 1996 5 1 77-79 10.1097/00019605-199601000-00012 8867664
5. Young KA Berry ML Mahaffey CL Saionz JR Hawes NL Chang B Zheng QY Smith RS Bronson RT Nelson RJ Simpson EM Fierce: A new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent Behav Brain Res 2002 132 2 145-158 10.1016/ S0166-4328(01)00413-2 11997145
6. Roy K Thiels E Monaghan AP Loss of the tailless gene affects forebrain development and emotional behavior Physiol Behav 2002 77 4-5 595-600 10.1016/S0031-9384(02)00902-2 12527005
7. Kumar RA Chan KL Wong AH Little KQ Rajcan-Separovic E Abrahams BS Simpson EM Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: Lessons from "fierce" mice Genesis 2004 38 2 51-57 10.1002/gene.20001 14994267
8. Jackson A Panayiotidis P Foroni L The human homologue of the Drosophila tailless gene (TLX): Characterization and mapping to a region of common deletion in human lymphoid leukemia on chromosome 6q21 Genomics 1998 50 1 34-43 10.1006/geno.1998.5270 9628820
9. Monaghan AP Grau E Bock D Schutz G The mouse homolog of the orphan nuclear receptor tailless is expressed in the developing forebrain Development 1995 121 3 839-853 7720587
10. Nishimura M Naito S Yokoi T Tissue-specific mRNA Expression Profiles of Human Nuclear Receptor Subfamilies Drug Metab Pharmacokinet 2004 19 2 135-149 10.2133/dmpk.19.135 15499180
11. Gurrieri F Cammarata M Avarello RM Genuardi M Pomponi MG Neri G Giuffre L Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21 Am J Med Genet 1995 55 3 315-318 10.1002/ajmg.1320550314 7726229
12. Viljoen DL Smart R Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation Clinical dysmorphology 1993 2 3 274-277 10.1097/ 00019605-199307000-00016 8287191
13. de Mollerat XJ Everman DB Morgan CT Clarkson KB Rogers RC Colby RS Aylsworth AS Graham JM Jr. Stevenson RE Schwartz CE P63 mutations are not a major cause of non-syndromic split hand/foot malformation Journal of medical genetics 2003 40 1 55-61 10.1136/jmg.40.1.55 12525544
14. Kumar RA Leach S Bonaguro R Chen J Yokom DW Abrahams BS Seaver L Schwartz CE Dobyns W Brooks-Wilson A Simpson EM Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations Genes Brain Behav 2006 17054721
15. Gordon D Abajian C Green P Consed: A graphical tool for sequence finishing Genome Res 1998 8 3 195-202 9521923
16. National Center for Biotechnology Information dbSNP http://www.ncbi.nlm.nih.gov/projects/SNP
17. Roy K Kuznicki K Wu Q Sun Z Bock D Schutz G Vranich N Monaghan AP The Tlx Gene Regulates the Timing of Neurogenesis in the Cortex J Neurosci 2004 24 38 8333-8345 10.1523/JNEUROSCI.1148-04.2004 15385616
18. Stenman J Yu RT Evans RM Campbell K Tlx and Pax6 co-operate genetically to establish the pallio-subpallial boundary in the embryonic mouse telencephalon Development 2003 130 6 1113-1122 10.1242/dev.00328 12571103