Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics

Gene

Volumn 524, Issue 1, 2013, Pages 65-71

  Al Qattan, Mohammad M ^a   Al Thunayan, Abdullah ^b   AlAbdulkareem, Ibrahim ^c,d   Al Balwi, Mohammed ^b,c,d  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

5q31.1; CGH; Liebenberg syndrome; PITX1 gene; Saudi Arabia

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PITX1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BRACHYDACTYLY; CHROMOSOME 5Q; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FORELIMB; GENE DELETION; HUMAN; LIEBENBERG SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA;

BRACHYDACTYLY; CARPAL BONES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; ELBOW JOINT; FEMALE; FINGERS; FOREARM; GENE DELETION; HAND DEFORMITIES, CONGENITAL; HISTONES; HUMANS; MALE; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; REGULATORY SEQUENCES, NUCLEIC ACID; SAUDI ARABIA; SYNOSTOSIS; UPPER EXTREMITY DEFORMITIES, CONGENITAL; WRIST JOINT;

EID: 84878111737     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.120     Document Type: Article

References (19)

1. Abdel-Ghani H., Mansour A., Mahmoud M., Ez-Elarab M. Liebenberg syndrome: case report and insight into molecular basis. J. Hand. Surg. 2013, 38A:459-465.
2. Boulard M., Strock S., Cong R., Pinto R., Delage H., Bouvet P. Histone variant macro H2A1 deletion in mice causes female - specific steatosis. Epigenetics Chromatin 2010, 3:8.
3. Butterfield N.C., McGlinn E., Wicking C. The molecular regulation of vertebrate limb patterning. Curr. Top. Dev. Biol. 2010, 90:319-341.
4. Chan Y.F., et al. Adaptive evolution of pelvic reduction in sticklebacks by recurrent deletion of a Pitx1 enhancer. Science 2010, 327:302-305.
5. Changolkar L.N., Costanzi C., Leu N.A., Chen D., McLaughlin K.J., Pehrson J.R. Developmental changes in histone macro H2A1 - mediated gene regulation. Mol. Cell. Biol. 2007, 27:2758-2764.
6. Costanzi C., Pehrson J.R. Histone macro H2A1 is concentrated in the inactive X chromosome of female mammals. Nature 1998, 393:599-601.
7. De Laurier A., Schweitzer R., Logan M. Pitx1 determines the morphology of muscle, tendon, and bones of the hind limb. Dev. Biol. 2006, 299:22-34.
8. Di Gennaro G., Gilardi R., Landi A., Ferrari P., Sartini S. Liebenberg syndrome: first case of monovular twins. Plast. Reconstr. Surg. 2010, 125:25e-27e.
9. Duboc V., Logan M.P. Building limb morphology through integration of signaling modules. Curr. Opin. Genet. Dev. 2009, 19:497-503.
10. Duboc V., Logan M.P. Regulation of limb bud initiation and limb-type morphology. Dev. Dyn. 2011, 240:1017-1027.
11. Liebenberg F. A pedigree with unusual anomalies of the elbows, wrist, and hands in fine generations. S. Afr. Med. J. 1973, 47:745-747.
12. Logan M., Tabin C.J. Role of Pitx1 upstream of Tbx4 in specification of hind limb identity. Science 1999, 283:1736-1739.
13. Mermoud J.E., Costanzi C., Pehrson, Brockdorff N. Histone macro H2A1.2 relocates to the inactive X chromosome after initiation and propagation of X-inactivation. J. Cell. Biol. 1999, 147:1399-1408.
14. Pehrson J.R., Fried N.A. Macro H2A, a cure histone containing a large nonhistone region. Science 1992, 257:1398-1400.
15. Rasmussen T.P., Huang T., Mastrangelo M.A., Loring J., Panning B., Jaenisch R. Messenger RNAs encoding mouse histone macro H2A1 isoforms are expressed at similar levels in male and female cells and result from alternative splicing. Nucleic Acids Res. 1999, 27:3685-3689.
16. Shapiro M.D., et al. Genetic and developmental basis of evolutionary pelvic reduction in three spine stickle-backs. Nature 2004, 428:717-723.
17. Spielmann, et al. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am. J. Hum. Genet. 2012, 91:629-635.
18. Tiberio G., Digilio M.C., Graziani M., Testa F., Giannotti A. Liebenberg Syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. J. Med. Genet. 2000, 37:548-551.
19. Zeller R., Lopez-Rios J., Zuniga A. Vertebrate limb bud development: moving towards integrative analysis or organogenesis. Nat. Rev. Genet. 2009, 10:845-858.