Clefts of the orofacial region are among the most common congenital defects, caused by abnormal facial development during gestation. Non-syndromic cleft lip with or without cleft palate (NSCLP) is a complex trait most probably caused by multiple interacting loci, with possible additional environmental factors. As facial clefts form part of more than 300 syndromes, one strategy for identifying the genetic causes of NSCLP could be to study candidate genes responsible for clefting syndromes. Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome. A linkage disequilibrium investigation was performed with intragenic single nucleotide polymorphisms on each of these genes in a sample study of 239 patients/parents trios. Evidence which suggests that JAG2 and MID1 may play a role in NSCLP was obtained.

Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study / Scapoli L; Martinelli M; Arlotti M; Palmieri A; Masiero E; Pezzetti F; Carinci F.. - In: EUROPEAN JOURNAL OF ORAL SCIENCES. - ISSN 0909-8836. - STAMPA. - 116:(2008), pp. 507-511. [10.1111/j.1600-0722.2008.00574.x]

Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study.

SCAPOLI, LUCA;MARTINELLI, MARCELLA;ARLOTTI, MARZIA;PALMIERI, ANNALISA;MASIERO, ELENA;PEZZETTI, FURIO;
2008

Abstract

Clefts of the orofacial region are among the most common congenital defects, caused by abnormal facial development during gestation. Non-syndromic cleft lip with or without cleft palate (NSCLP) is a complex trait most probably caused by multiple interacting loci, with possible additional environmental factors. As facial clefts form part of more than 300 syndromes, one strategy for identifying the genetic causes of NSCLP could be to study candidate genes responsible for clefting syndromes. Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome. A linkage disequilibrium investigation was performed with intragenic single nucleotide polymorphisms on each of these genes in a sample study of 239 patients/parents trios. Evidence which suggests that JAG2 and MID1 may play a role in NSCLP was obtained.
2008
Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study / Scapoli L; Martinelli M; Arlotti M; Palmieri A; Masiero E; Pezzetti F; Carinci F.. - In: EUROPEAN JOURNAL OF ORAL SCIENCES. - ISSN 0909-8836. - STAMPA. - 116:(2008), pp. 507-511. [10.1111/j.1600-0722.2008.00574.x]
Scapoli L; Martinelli M; Arlotti M; Palmieri A; Masiero E; Pezzetti F; Carinci F.
File in questo prodotto:
Eventuali allegati, non sono esposti

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/71004
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 15
  • Scopus 31
  • ???jsp.display-item.citation.isi??? 26
social impact