Abstract
Cleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology which is not fully elucidated yet. Epidemiological studies point to different etiologies in the cleft lip and palate subgroups, isolated cleft lip (CL), isolated cleft palate (CP) and combined cleft lip and palate (CLP). In order to understand the biological basis in these cleft lip and palate subgroups better we studied the expression profiles in human tissue from patients with CL/P. In each of the CL/P subgroups, samples were obtained from three patients and gene expression analysis was performed. Moreover, selected differentially expressed genes were analyzed by quantitative RT-PCR, and by immunohistochemical staining of craniofacial tissue from human embryos. Osteopontin (SPP1) and other immune related genes were significantly higher expressed in palate tissue from patients with CLP compared to CP and immunostaining in palatal shelves against SPP1, chemokine receptor 4 (CXCR4) and serglycin (PRG1) in human embryonic craniofacial tissue were positive, supporting a role for these genes in palatal development. However, gene expression profiles are subject to variations during growth and therefore we recommend that future gene expression in CL/P studies should use tissue from the correct embryonic time and place if possible, to overcome the biases in the presented study.
Highlights
Cleft lip and/or palate (CL/P) is a common congenital malformation affecting approximately 2 per 1000 newborns worldwide (Murray, 2002) and causing a major psychosocial and economic burden for the families
We identified 19 genes differentially expressed in the lip tissue from cleft lip (CL) and cleft lip and palate (CLP) respectively: Bone marrow stromal cell antigen 2 (BST2), SMART/ HDAC1 associated repressor protein (SPEN), Deiodinase, iodothyronine type II (DIO2), Cytochrome c oxidase subunit VIIa polypeptide 1 (COX7A1), Butyrophilin, subfamily 3, member A3 (BTN3A3), Crystallin, alpha B (CRYAB), gb:M27487, gb:AA770596, Major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA1), Heat shock protein, alpha-crystallin-related, B6 (HSPB6), Protein kinase C and casein kinase substrate in neurons 3 (PACN3), EGF-like-domain, multiple 6 (EGFL6), Calsequestrin 1 (CASQ1), gb:AF116709, Nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), Kinase interacting stathmin (UHMK1), Hypothetical protein (CMYA1), Hypothetical protein MGC34032, EH domain binding protein 1-like 1 (EHBP1L1) (Table 2)
We performed the present study in order to obtain more information on the genetic etiology of CL/P in general and more information on the genetic differences in the CL/P subgroups
Summary
Cleft lip and/or palate (CL/P) is a common congenital malformation affecting approximately 2 per 1000 newborns worldwide (Murray, 2002) and causing a major psychosocial and economic burden for the families. CL/P is a complex disease caused by both environmental and genetic factors, most studies point to genetic factors as the major determinants (Christensen and Mitchell, 1996). Epidemiological studies point to that CL/P subgroups may have different etiologies, as. Med. Vol 41(2), 77-85, 2009 isolated cleft palate (CP) and combined cleft lip and palate (CLP) seldom occur in the same families (Fogh-Andersen, 1942), and isolated cleft lip (CL) and CLP display different sex ratios and prevalences of associated malformations (Harville et al, 2005)
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