Genes Implicated In Cleft Lip Development

Genes Implicated In Cleft Lip Development

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Cleft palate and cleft lip are some of the most common birth defects in the United States. Many researchers have dedicated themselves to better understanding this phenomenon. One interesting study is called, Haploinsufficiency Leads to Cleft Lip and Palate Science 22 September 2006: Vol. 313 no. 5794 p. 1751 by Fowzan S. Alkuraya, Irfan Saadi, Jennifer J. Lund, Annick Turbe-Doan, Cynthia C. Morton and Richard L. Maas. Here is an excerpt: Abstract - The posttranslational modification sumoylation can have multiple effects on its substrate proteins. We studied a patient with isolated cleft lip and palate and a balanced chromosomal translocation that disrupts the SUMO1 (small ubiquitin-related modifier) gene, resulting in haploinsufficiency. In mouse, we found that Sumo1 is expressed in the developing lip and palate and that a Sumo1 hypomorphic allele manifests an incompletely penetrant orofacial clefting phenotype. Products of several genes implicated in clefting are sumoylated, and the Sumo1 hypomorphic allele interacts genetically with a loss-of-function allele for one of these loci. Thus, sumoylation defines a network of genes important for palatogenesis.

Another interesting study is called, Presurgical Nasoalveolar Molding in Infants with Cleft Lip and Palate by Barry H. Grayson, D.D.S.a, Pedro E. Santiago, D.M.D.b, Lawrence E. Brecht, D.D.S.c, and Court B. Cutting, M.D.d - The Cleft Palate-Craniofacial Journal: November 1999, Vol. 36, No. 6, pp. 486-498. Here is an excerpt: Abstract - Presurgical infant orthopedics has been employed since the 1950s as an adjunctive neonatal therapy for the correction of cleft lip and palate. In this paper, we present a paradigm shift from the traditional methods of presurgical infant orthopedics. Some of the problems that the traditional approach falled to address include the deformity of the nasal cartilages in unilateral as well as bilateral clefts of the lip and palate and the deficiency of columella tissue in infants with bilateral clefts. The nasoalveolar molding (NAM) technique we describe uses acrylic nasal stents attached to the vestibular shield of an oral molding plate to mold the nasal alar cartilages into normal form and position during the neonatal period. This technique takes advantage of the malleability of immature cartilage and its ability to maintain a permanent correction of its form. In addition, we demonstrate the ability to nonsurgically construct the columella through the application of tissue expansion principles. This construction is performed by gradual elongation of the nasal stents and the application of tissue-expanding elastic forces that are applied to the prolabium. Use of the NAM technique has eliminated surgical columella reconstruction and the resultant scar tissue from the standard of care in this cleft palate center.

Another interesting study is called, Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. By L E Mitchell and N Risch - Division of Biostatistics, Washington University School of Medicine, St. Louis, MO 63110. Am J Hum Genet. 1992 August; 51(2): 323332. Here is an excerpt: Abstract - Nonsyndromic cleft lip with or without cleft palate (CL +/- P) is traditionally recognized as a multifactorial threshold trait (MFT). Recently, however, evidence for the involvement of a major gene in the etiology of CL +/- P has been reported. To assess the potential for major-gene involvement in the etiology of this trait, familial recurrence patterns from several family studies of CL +/- P were reanalyzed. The recurrence patterns in first-degree relatives of CL +/- P probands were found to be compatible with the expectations for either an MFT or a generalized single-major-locus (gSML) trait. The use of multiple thresholds based on proband sex, defect bilaterality, or palatal involvement did not help to discriminate between these models. However, the pattern of recurrence among MZ twins and more remote relatives of CL +/- P probands is not consistent with gSML inheritance but is compatible with either an MFT model or a model specifying multiple interacting loci. For such a model, no single locus can account for more than a sixfold increase in risk to first-degree relatives. These findings have important implications with regard to the feasibility of detecting linkage to loci conferring susceptibility to CL +/- P.

We all owe a debt of gratitude to these researchers for their fine work and dedication. For more information, please read the studies in their entirety.

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Monty Wrobleski is the author of this article. For more information please click on the following links
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