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Hypodontia and Cleft Lip Palate; A Consequence of Homozygous Missense Mutation in PAX9 Gene

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Research Paper 01/03/2017
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Hypodontia and Cleft Lip Palate; A Consequence of Homozygous Missense Mutation in PAX9 Gene

Agha Muhammad Raza, Nasrullah Mengal, Muhammad Nawaz, Muhammad Saeed, Abdul Wali, Jamil Ahmad
Int. J. Biosci.10( 3), 382-387, March 2017.
Certificate: IJB 2017 [Generate Certificate]
Key: Cleft lip palateHypodontiaPAX9 and homozygous mutation

Abstract

The congenital absence of teeth is one of the major and commonest dental developmental disorders seen in humans. Hypodontia is used as a collective term for congenitally absence of one to six teeth, excluding the third molars. The knowledgeof the etiological basis of inherited tooth loss remains poor,thus far two genes (PAX9 and MSX1) have been identified as the major causes of hypodontia.Here, we investigated two Pakistani families affected with hypodontia and cleft lip palate. Radiographic examination revealed missing of multiple permanent teeth in affected individuals of both families. Blood samples (5ml) were collected from all affected individuals, their parents and normal siblings. Genomic DNA was extracted by using inorganic method. All the three coding exons of PAX9(NM_006194) were amplified and sequenced. Sequencing of the PAX9 coding exons and splice sites showed a homozygous missense substitution in exon 3 (c. 718C>G; p.Ala240Pro) in the affected individuals of both the families. This mutation co-segregated with hypodontia and cleft lip palate in the respective families. As a conclusion, we identified a missense substitution (p.Ala240Pro) in gene PAX9 in two different Pakistani families with hypodontia and cleft lip palate.

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Arte S, Nieminen P, Apajalahti S, Haavikko K Thesleff I, Pirinen S. 2001. Characteristics of incisor-premolar hypodontia in families. Journal of dental research 80(5), 1445-1450.

Boyadjiev S, Jabs E. 2000. Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. Clinical genetics 57(4), 253-266.

Cobourne M. 2007. Familial human hypodontia–is it all in the genes? British dental journal 203(4), 203-208.

Gorlin RJ, Cohen MM, Hennekam RC. 1990. Syndromes of the head and neck Vol. 819, Oxford University Press New York.

Matalova E, Fleischmannova J, Sharpe P, Tucker A. 2008. Tooth agenesis: from molecular genetics to molecular dentistry. Journal of dental research 87(7), 617-623.

McKeown H, Robinson D, Elcock C, Al-Sharood M, Brook A. 2002. Tooth dimensions in hypodontia patients, their unaffected relatives and a control group measured by a new image analysis system. European Journal of Orthodontics 24(2), 131-142.

Mostowska A, Biedziak B, Zadurska M, Matuszewska‐Trojan S, Jagodziński PP. 2015. WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies. European Journal of Oral Sciences 123(1), 1-8.

Nieminen P. 2009. Genetic basis of tooth agenesis. Journal of Experimental Zoology Part B: Molecular and Developmental Evolution 312(4), 320-342.

Pemberton TJ, Das P, Patel PI. 2005. Hypodontia: genetics and future perspectives. Braz J Oral Sci 4(13), 695-706.

Swartz ME, Sheehan‐Rooney K, Dixon MJ, Eberhart JK. 2011. Examination of a palatogenic gene program in zebrafish. Developmental Dynamics 240(9), 2204-2220.

Thesleff I. 2006. The genetic basis of tooth development and dental defects. American Journal of Medical Genetics Part A 140(23), 2530-2535.

Vani NV, Saleh SM, Tubaigy FM, Idris A. 2016. Prevalence of developmental dental anomalies among adult population of Jazan, Saudi Arabia. The Saudi Journal for Dental Research 7(1), 29-33.

Zhou J, Gao Y, Lan Y, Jia S, Jiang R. 2013. Pax9 regulates a molecular network involving Bmp4, Fgf10, Shh signaling and the Osr2 transcription factor to control palate morphogenesis. Development 140(23), 4709-4718.

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