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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.

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Authors+Show Affiliations

Vera-Carbonell A
Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, Murcia, Spain.
Moya-Quiles MR
No affiliation info available
Ballesta-Martínez M
No affiliation info available
López-González V
No affiliation info available
Bafallíu JA
No affiliation info available
Guillén-Navarro E
No affiliation info available
López-Expósito I
No affiliation info available

MeSH

AdolescentChild, PreschoolChromosome DeletionChromosomes, Human, Pair 7Cleft LipCleft PalateCraniofacial AbnormalitiesEctodermal DysplasiaGenetic Diseases, X-LinkedHomeodomain ProteinsHumansInfantLimb Deformities, CongenitalMaleMutation, MissenseProteasome Endopeptidase ComplexSequence DeletionTranscription FactorsTumor Suppressor Proteins

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 -