Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 902-906

  Barroso, Eva ^a,b   Berges Soria, Julia ^a   Benito Sanz, Sara ^a,b   Rivera Pedroza, Carlos Ivan ^a   Ballesta Martínez, María Juliana ^b,c   López González, Vanesa ^b,c   Guillen Navarro, Encarna ^b,c,d   Heath, Karen E ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^d CATHOLIC UNIVERSITY OF MURCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN; IHH PROTEIN, HUMAN;

ARTICLE; CHROMOSOME 2Q; COMPARATIVE GENOMIC HYBRIDIZATION; CORRELATION ANALYSIS; CRANIOFACIAL SYNOSTOSIS; GENE AMPLIFICATION; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENETIC ANALYSIS; HUMAN; IHH GENE; LINKAGE ANALYSIS; MORPHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATOR GENE; SIGNAL TRANSDUCTION; SYNDACTYLY; CASE REPORT; CHILD; GENETIC ASSOCIATION; GENETICS; MALE; PEDIGREE; RADIOGRAPHY; REGULATORY SEQUENCE;

CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOSYNOSTOSES; GENETIC ASSOCIATION STUDIES; HEDGEHOG PROTEINS; HUMANS; MALE; PEDIGREE; PHENOTYPE; REGULATORY SEQUENCES, NUCLEIC ACID;

EID: 84925755690     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36811     Document Type: Article

References (14)

1. Boulet SL, Rasmussen SA, Honein MA. 2008. A population-based study of craniosynostosis in metropolitan Atlanta 1989-2003. Am J Med Genet Part A 146:984-991.
2. Babbs C, Furniss D, Morris-Kay GM, Wikie AO. 2008. Polydactyly in the mouse mutant Doublefoot involves Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. Mech Dev 125:517-526.
3. Benito-Sanz S, Aza-Carmona M, Rodriguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE. 2011. Clinical and molecular evaluation of SHOX/PAR1 duplications in Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol and Metab 96:E404-E412.
4. Bitgood MJ, McMahon AP. 1995. Hedgehog and BMP genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo. Dev Biol 172:126-138.
5. Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM. 2000. Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. Am J Hum Genet 67:492-497.
6. Briscoe J, Thérond PP. 2013. The mechanisms of Hedgehog signalling and its roles in development and disease. Nat Rev Mol Cell Biol 14:416-429.
7. Castilla EE, Paz JE, Orioli-Parreiras IM. 1980. Syndactyly: frequency of specific types. Am J Med Genet 5:357-364.
8. Ghadami M, Majidzadeh-A K, Haerian BS, Damavandi E, Yamada K, Pasallar P, Najafi MT, Nishimura G, Tomita HA, Yoshiura KI, Niikawa N. 2001. Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family. Am J Med Genet 104:147-151.
9. Jain M, Wallis D, Robin NH, De Vrieze FW, Hardy JA, Ghadami M, Bosse K, Betz RC, Nöthen MM, Arcos-Burgos M, Muenke M. 2008. Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?. Am J Med Genet Part A 146:2308-2311.
10. Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S. 2011. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88:70-75.
11. Montavon T, Thevenet L, Duboule D. 2012. Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus. Proc Natl Acad Sci U S A 109:20204-20211.
12. Pan A, Chang L, Nguyen A, James AW. 2013. A review of hedgehog signaling in cranial bone development. Front Physiol 4:-61.
13. Robin NH, Segel B, Carpenter G, Muenke M. 1996. Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynososis and syndactyly of the fingers and toes. Am J Med Genet 62:184-191.
14. Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. 2012. A large duplication involving the IHH locus mimics acrocallosal syndrome. Eur J Hum Genet 20:639-644.