MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA

Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study. Place and Duration of Study: This descriptive study was performing in human molecular genetics (HM...

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Autores principales:	Muhammad Nawaz, Nasrullah Khan, Agha Muhammad Raza, Nisar Ahmed, Jamil Ahmad
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2018
Materias:	congenital hypodontia missense mutation Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/2e0d63dba1554a6b9025be1b88412a45
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spelling	oai:doaj.org-article:2e0d63dba1554a6b9025be1b88412a452021-11-29T02:57:20ZMMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA0030-96482411-8842https://doaj.org/article/2e0d63dba1554a6b9025be1b88412a452018-12-01T00:00:00Zhttps://www.pafmj.org/index.php/PAFMJ/article/view/2587/2114https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study. Place and Duration of Study: This descriptive study was performing in human molecular genetics (HMG) laboratory of Baluchistan University of information technology, engineering and management sciences (BUITEMS). The study was of 4 months duration. Material and Methods: Blood samples (5ml) were collected from all 15 families’ members (35participant). 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 misses substitution in exon 3 (c. 718G>C; p.Ala240Pro) in the affected individuals of the family. Results: Intra-oral and panoramic radiographs revealed that the proband (II-1) and her father (I-1) have hypodontia denoted by the complete absence of teeth in maxillary arch, while all other family members maintained normal dentitions. The missing teeth are both upper lateral incisors (12, 22 FDI numbering) and third molars (18, 28). Mandibular arch show; retained deciduous teeth and no teeth permanent teeth missing. Pedigree construction indicated that phenotypes in this family showed an autosomal recessive segregation pattern. The sequencing of coding exons and splice sites of PAX9 gene showed a homozygous missense mutation in exon number 3 (c. 718G>C; p.Ala240Pro) in the affected individuals of the family. Conclusion: We identified a missense mutation (p.Ala240Pro) in gene PAX9 coding exon 3 in Pakistani family with hypodontia.Muhammad NawazNasrullah KhanAgha Muhammad RazaNisar AhmedJamil AhmadArmy Medical College Rawalpindiarticlecongenitalhypodontiamissense mutationMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 68, Iss 6, Pp 1705-1710 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	congenital hypodontia missense mutation Medicine R Medicine (General) R5-920
spellingShingle	congenital hypodontia missense mutation Medicine R Medicine (General) R5-920 Muhammad Nawaz Nasrullah Khan Agha Muhammad Raza Nisar Ahmed Jamil Ahmad MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA
description	Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study. Place and Duration of Study: This descriptive study was performing in human molecular genetics (HMG) laboratory of Baluchistan University of information technology, engineering and management sciences (BUITEMS). The study was of 4 months duration. Material and Methods: Blood samples (5ml) were collected from all 15 families’ members (35participant). 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 misses substitution in exon 3 (c. 718G>C; p.Ala240Pro) in the affected individuals of the family. Results: Intra-oral and panoramic radiographs revealed that the proband (II-1) and her father (I-1) have hypodontia denoted by the complete absence of teeth in maxillary arch, while all other family members maintained normal dentitions. The missing teeth are both upper lateral incisors (12, 22 FDI numbering) and third molars (18, 28). Mandibular arch show; retained deciduous teeth and no teeth permanent teeth missing. Pedigree construction indicated that phenotypes in this family showed an autosomal recessive segregation pattern. The sequencing of coding exons and splice sites of PAX9 gene showed a homozygous missense mutation in exon number 3 (c. 718G>C; p.Ala240Pro) in the affected individuals of the family. Conclusion: We identified a missense mutation (p.Ala240Pro) in gene PAX9 coding exon 3 in Pakistani family with hypodontia.
format	article
author	Muhammad Nawaz Nasrullah Khan Agha Muhammad Raza Nisar Ahmed Jamil Ahmad
author_facet	Muhammad Nawaz Nasrullah Khan Agha Muhammad Raza Nisar Ahmed Jamil Ahmad
author_sort	Muhammad Nawaz
title	MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA
title_short	MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA
title_full	MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA
title_fullStr	MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA
title_full_unstemmed	MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA
title_sort	mmuuttaattiioonnanalysis of pax9 gene in affected family of hypodontia attending tertiary care hospital of quetta
publisher	Army Medical College Rawalpindi
publishDate	2018
url	https://doaj.org/article/2e0d63dba1554a6b9025be1b88412a45
work_keys_str_mv	AT muhammadnawaz mmuuttaattiioonnanalysisofpax9geneinaffectedfamilyofhypodontiaattendingtertiarycarehospitalofquetta AT nasrullahkhan mmuuttaattiioonnanalysisofpax9geneinaffectedfamilyofhypodontiaattendingtertiarycarehospitalofquetta AT aghamuhammadraza mmuuttaattiioonnanalysisofpax9geneinaffectedfamilyofhypodontiaattendingtertiarycarehospitalofquetta AT nisarahmed mmuuttaattiioonnanalysisofpax9geneinaffectedfamilyofhypodontiaattendingtertiarycarehospitalofquetta AT jamilahmad mmuuttaattiioonnanalysisofpax9geneinaffectedfamilyofhypodontiaattendingtertiarycarehospitalofquetta
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MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA

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