Clinical findings in patients with GLI2 mutations - phenotypic variability

Clinical Genetics

Volumn 81, Issue 1, 2012, Pages 70-75

  Bertolacini, C D P ^a   Ribeiro Bicudo, L A ^a   Petrin, A ^b   Richieri Costa, A ^a   Murray, J C ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

Branchial arch anomalies; Cleft lip and palate; GLI2; HPE; HPE L; Polydactyly; SHH signaling pathway; Temporomandibular joint

Indexed keywords

TRANSCRIPTION FACTOR GLI2;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HOLOPROSENCEPHALY; HUMAN; MOLECULAR DIAGNOSIS; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL;

3' UNTRANSLATED REGIONS; ADULT; BRANCHIAL REGION; BRAZIL; CHILD, PRESCHOOL; CLEFT LIP; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOME, HUMAN; GENOMIC STRUCTURAL VARIATION; HOLOPROSENCEPHALY; HUMANS; INFANT; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; POLYDACTYLY; TEMPOROMANDIBULAR JOINT;

EID: 83355172819     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01606.x     Document Type: Article

References (23)

1. Cohen MM Jr. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol 2006: 76: 658-673.
2. Muenke M, Beachy PA. Genetics of ventral forebrain development and holoprosencephaly. Curr Opin Genet Dev 2001: 10: 262-269.
3. Seppala M, Depew MJ, Martinelli DC, Fan CM, Sharpe PT, Cobourne MT. Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. J Clin Invest 2007: 117: 1575-1584.
4. Abe Y, Oka A, Mizuguchi M et al. EYA4 deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally. Hum Mutat 2009: 30: 946-955.
5. Bendavid C, Rochard L, Dubourg C et al. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci. Hum Mutat 2009: 30: 1175-1182.
6. Martinelli DC, Fan CM. A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1. J Biol Chem 2009: 284: 19169-19172.
7. Roessler E, Ma Y, Ouspenskaia MV et al. Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Hum Genet 2009: 125: 393-400.
8. Rosenfeld JA, Ballif BC, Martin DM et al. Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Hum Genet 2010: 127: 421-440.
9. Roessler E, Ermilov AN, Grange DK et al. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet 2005: 14: 2181-2188.
10. Roessler E, Du YZ, Mullor JL et al. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A 2003: 100: 13424-13429.
11. Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC. GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum? Am J Med Genet A 2006: 140: 2571-2576.
12. Brito JM, Teillet MA, Le Douarin NM. Induction of mirror-image supernumerary jaws in chicken mandibular mesenchyme by sonic hedgehog-producing cells. Development 2008: 135: 2311-2319.
13. Theil T, Kaesler S, Grotewold L, Böse J, Rüther U. Gli genes and limb development. Cell Tissue Res 1999: 296: 75-83.
14. Purcell P, Joo BW, Hu JK et al. Temporomandibular joint formation requires two distinct hedgehog-dependent steps. Proc Natl Acad Sci U S A 2009: 106: 18297-18302.
15. Miao D, Liu H, Plut P et al. Impaired endochondral bone development and osteopenia in Gli2-deficient mice. Exp Cell Res 2004: 294: 210-222.
16. Park HL, Bai C, Platt KA et al. Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation. Development 2000: 127: 1593-1605.
17. Bai CB, Auerbach W, Lee JS, Stephen D, Joyner AL. Gli2, but not Gli1, is required for initial Shh signaling and ectopic activation of the Shh pathway. Development 2002: 129: 4753-4761.
18. Lebel M, Mo R, Shimamura K, Hui CC. Gli2 and Gli3 play distinct roles in the dorsoventral patterning of the mouse hindbrain. Dev Biol 2007: 302: 345-355.
19. Ke Z, Kondrichin I, Gong Z, Korzh V. Combined activity of the two Gli2 genes of zebrafish play a major role in hedgehog signaling during zebrafish neurodevelopment. Mol Cell Neurosci 2008: 37: 388-401.
20. Hu D, Marcucio RS. A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm. Development 2009: 136: 107-116.
21. David D, Marques B, Ferreira C et al. Characterization of two ectrodactylyassociated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2. Eur J Hum Genet 2009: 8: 1024-1033.
22. Mansilla MA, Cooper ME, Goldstein T et al. Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate Craniofac J 2006: 43: 21-29.
23. Solomon BD, Lacbawan F, Jain M et al. A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A 2009: 149: 919-925.