Do Orofacial Clefts Represent Different Genetic Entities?

Reiter, Rudolf; Brosch, S.; Lüdeke, Manuel; Fischbein, Elena; Rinckleb, Antje E.; Haase, S.; Schwandt, Anke; Pickhard, Anja; Maier, Christiane; Högel, Josef; Vogel, Walther

doi:10.1597/13-016

Cited by 14 publications

(22 citation statements)

References 26 publications

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“…Most common were anomalies of the skeleton (23), NTD (19) and anomalies of the abdominal wall (7) (Tab. 5).…”

Section: Tab 3 Fetuses With R IIImentioning

confidence: 99%

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Can we predict orofacial cleft in future pregnancy?

Malová¹,

Braxatorisová²,

Luha³

et al. 2016

BLL

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AIM: The aim of this thesis was not only to defi ne the frequency of all orofacial clefts and their particular types, but also to determine the sex of an embryo or fetus and detect associated developmental and chromosomal abnormalities. Approximately one third of orofacial clefts are a part of chromosomal syndromes. MATERIALS AND METHODS: Retrospective morphological and cytogenetic study of 43 cases of different types of orofacial clefts between 1992-2014 from miscarriages (spontaneous abortions) and premature births. RESULTS: Associated abnormalities were found in 34 cases. Most of the anomalies were skeletal anomalies (29), NTD (24) and anomalies of the abdominal wall (9). Most associated anomalies were found in the R III group (93.3 %). Eleven of the successfully cultivated cases (26 %) had a normal karyotype and in 14 of the cases (32 %), numerical or unbalanced structural chromosomal aberrations were found. CONCLUSION: Our data did not show that isolated clefts were not associated with a higher risk of chromosomal aberrations. Higher percentage of chromosomal aberrations found in isolated clefts in our pool can be explained by the age of the embryos and fetuses -usually between day 43 and week 12. It is nearly impossible to diagnose some associated congenital defects at such an early age. Thanks to the morphological and cytogenetic analysis of embryos and fetuses with orofacial cleft, it is possible to estimate if not determine the etiologic factor which infl uenced the miscarriage. Additionally, in the case of birth defects, the prognosis for future pregnancy can be offered, which is important information for gynecologist and clinical geneticist (Tab. 5, Fig. 5, Ref. 31). Text in PDF www.elis.sk.

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“…Most common were anomalies of the skeleton (23), NTD (19) and anomalies of the abdominal wall (7) (Tab. 5).…”

Section: Tab 3 Fetuses With R IIImentioning

confidence: 99%

“…Etiology of orofacial clefts is usually multifactorial, they are caused not only by genetic predisposition but also by teratogenic factors, especially in the second and at the beginning of third month when the fetus is most susceptible (24,19). They can be formed as an individual defect or as a part of monogenic or chromosomal disorders.…”

Section: Introductionmentioning

confidence: 99%

Can we predict orofacial cleft in future pregnancy?

Malová¹,

Braxatorisová²,

Luha³

et al. 2016

BLL

View full text Add to dashboard Cite

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“…The etiology of clefts in humans is a complex interaction between genetic and environmental factors (2). Nonetheless, our knowledge of their etiology and pathogenesis remains scarce, limiting our efforts at prevention (3).…”

Section: Introductionmentioning

confidence: 99%

“…In many cases, the underlying molecular and cellular mechanisms that result in these debilitating anomalies remain largely unknown (4). OFCs lead to many complications including speech, hearing and feeding problems that require a team of maxillofacial and oral surgeons, head and neck surgeons, speech therapists and phoniatricians for treatment (2). Although surgical treatment has improved over the centuries, facial scarring remains a problem.…”

Section: Introductionmentioning

confidence: 99%

Effects of CCN3 on fibroblast proliferation, apoptosis and extracellular matrix production

Ren

Hou

et al. 2014

International Journal of Molecular Medicine

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Abstract. CCN2 and CCN3 belong to the CCN family of proteins, which show a high level of structural similarity. Previous studies have shown that CCN2 mediates the ability of transforming growth factor (TGF)-β to stimulate collagen synthesis, leading to keloid formation. CCN2 and CCN3 are opposing factors in regulating the promoter activity and secretion of this extracellular matrix (ECM) protein. Thus, we hypothesize that CCN3 possesses an anti-scarring effect. However, the exact mechanism of CCN3 in this anti-scarring effect remains unclear. The aim of this study was to investigate the mechanism of CCN3 in reducing scar formation. Palatal fibroblasts were obtained from the explants of the oral palatal mucosa of 8-week-old male Sprague-Dawley rats. CCN3 overexpression vector was constructed and then transfected into cells. The inhibitory effects of CCN3 on cell growth were detected via the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. Apoptosis was measured using an Annexin V-fluorescein isothiocyanate (FITC)/propidium iodide (PI) apoptosis detection kit and flow cytometry. The expression levels of collagen I, collagen III and α-smooth muscle actin (α-SMA) were determined by western blot analysis and RT-PCR. Following treatment with TGF-β1, we detected the expression of CCN3 and Smad1 in the fibroblasts. CCN3 significantly inhibited the growth and induction of apoptosis of fibroblasts. The expression of collagen I, collagen III and α-SMA was lower in the CCN3-transfected group as compared to the control and vector groups. TGF-β1 stimulation efficiently suppressed the expression of CCN3 at the mRNA and protein levels, and CCN3 was required for TGF-β1-induced Smad1 phosphorylation. Results of this study demonstrated that CCN3 is involved in the proliferation and apoptosis of fibroblasts and the synthesis of ECM proteins. Therefore, CCN3 may play an important role in the development of scar tissue, and may represent a novel therapeutic target for reducing scar formation.

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“…Nonsyndromic orofacial clefts are regarded as multifactorial disorders with diverse genetic and environmental factors contributing to their occurrence [Jugessur et al, 2009;Dixon et al, 2011;Reiter et al, 2014]. In contrast to CL/P, the genetic architecture of CPO and SMCP is poorly understood.…”

Section: To the Editormentioning

confidence: 99%