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Kohli SS, Kohli VS. A comprehensive review of the genetic basis of cleft lip and palate. J Oral Maxillofac Pathol. 2012;16(1):64-72doi: 10.4103/0973-029X.92976.
Kohli, S. S., & Kohli, V. S. (2012). A comprehensive review of the genetic basis of cleft lip and palate. Journal of oral and maxillofacial pathology : JOMFP, 16(1), 64-72. https://doi.org/10.4103/0973-029X.92976
Kohli, Sarvraj Singh, and Kohli, Virinder Singh. "A comprehensive review of the genetic basis of cleft lip and palate." Journal of oral and maxillofacial pathology : JOMFP vol. 16,1 (2012): 64-72. doi: https://doi.org/10.4103/0973-029X.92976
Kohli SS, Kohli VS. A comprehensive review of the genetic basis of cleft lip and palate. J Oral Maxillofac Pathol. 2012 Jan;16(1):64-72. doi: 10.4103/0973-029X.92976. PMID: 22438645; PMCID: PMC3303526.
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J Oral Maxillofac Pathol. 2012 Jan;16(1):64-72. doi: 10.4103/0973-029X.92976.

A comprehensive review of the genetic basis of cleft lip and palate.

Journal of oral and maxillofacial pathology : JOMFP

Sarvraj Singh Kohli, Virinder Singh Kohli

Affiliations

  1. Department of Orthodontics and Dentofacial Orthopedics, Hitkarini Dental College and Hospital, Jabalpur, Madhya Pradesh, India.

PMID: 22438645 PMCID: PMC3303526 DOI: 10.4103/0973-029X.92976

Abstract

Cleft lip and palate (CLP) are birth defects that affect the upper lip and the roof of the mouth. CLP has a multifactorial etiology, comprising both genetic and environmental factors. In this review we discuss the recent data on the etiology of cleft lip and palate. We conducted a search of the MEDLINE database (Entrez PubMed) from January 1986 to December 2010 using the key words: 'cleft lip,' 'cleft palate,' 'etiology,' and 'genetics.' The etiology of CLP seems complex, with genetics playing a major role. Several genes causing syndromic CLP have been discovered. Three of them-T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. The nature and functions of these genes vary widely, illustrating the high vulnerability within the craniofacial developmental pathways. The etiological complexity of nonsyndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. To conclude, although the etiology of nonsyndromic CLP is still largely unknown, mutations in candidate genes have been identified in a small proportion of cases. Determining the relative risk of CLP on the basis of genetic background and environmental influence (including smoking, alcohol use, and dietary factors) will be useful for genetic counseling and the development of future preventive measures.

Keywords: Cleft lip; cleft palate; etiology; genetics

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