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Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
Gene. 2012 Apr 15; 497(2):292-7.GENE

Abstract

Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM). Chromosomal deletions on 7q21 locus can result in loss of DXL5/DLX6 and/or in loss/disruption of cis-regulatory elements, at which p63 binds. We report two patients that have in common a p63-Dlx5/Dlx6 pathway dysregulation. One showed growth retardation, craniofacial dysmorphism, syndactyly, developmental delay and a de novo deletion (~8.5Mb) on chromosome 7q21.13-q21.3, including DLX5 and DLX6. The second patient with a clinical diagnosis of RHS showed a de novo heterozygous missense mutation, c. 401G>A (p.G134D), in TP63 (exon 4). Our findings may contribute to a greater understanding of the pathogenic mechanisms underlying disorders caused by TP63 mutations.

Authors+Show Affiliations

Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, Murcia, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22342398

Citation

Vera-Carbonell, Ascensión, et al. "Rapp-Hodgkin Syndrome and SHFM1 Patients: Delineating the p63-Dlx5/Dlx6 Pathway." Gene, vol. 497, no. 2, 2012, pp. 292-7.
Vera-Carbonell A, Moya-Quiles MR, Ballesta-Martínez M, et al. Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. Gene. 2012;497(2):292-7.
Vera-Carbonell, A., Moya-Quiles, M. R., Ballesta-Martínez, M., López-González, V., Bafallíu, J. A., Guillén-Navarro, E., & López-Expósito, I. (2012). Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. Gene, 497(2), 292-7. https://doi.org/10.1016/j.gene.2012.01.088
Vera-Carbonell A, et al. Rapp-Hodgkin Syndrome and SHFM1 Patients: Delineating the p63-Dlx5/Dlx6 Pathway. Gene. 2012 Apr 15;497(2):292-7. PubMed PMID: 22342398.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. AU - Vera-Carbonell,Ascensión, AU - Moya-Quiles,María Rosa, AU - Ballesta-Martínez,María, AU - López-González,Vanesa, AU - Bafallíu,Juan Antonio, AU - Guillén-Navarro,Encarna, AU - López-Expósito,Isabel, Y1 - 2012/02/09/ PY - 2011/12/29/received PY - 2012/01/27/revised PY - 2012/01/29/accepted PY - 2012/2/21/entrez PY - 2012/2/22/pubmed PY - 2012/7/19/medline SP - 292 EP - 7 JF - Gene JO - Gene VL - 497 IS - 2 N2 - Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM). Chromosomal deletions on 7q21 locus can result in loss of DXL5/DLX6 and/or in loss/disruption of cis-regulatory elements, at which p63 binds. We report two patients that have in common a p63-Dlx5/Dlx6 pathway dysregulation. One showed growth retardation, craniofacial dysmorphism, syndactyly, developmental delay and a de novo deletion (~8.5Mb) on chromosome 7q21.13-q21.3, including DLX5 and DLX6. The second patient with a clinical diagnosis of RHS showed a de novo heterozygous missense mutation, c. 401G>A (p.G134D), in TP63 (exon 4). Our findings may contribute to a greater understanding of the pathogenic mechanisms underlying disorders caused by TP63 mutations. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/22342398/Rapp_Hodgkin_syndrome_and_SHFM1_patients:_delineating_the_p63_Dlx5/Dlx6_pathway_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(12)00144-8 DB - PRIME DP - Unbound Medicine ER -