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A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia

A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia. Muhammad Ayub Asst.Professor in Biochemistry University of Balochistan Quetta. Causes of Human Genetic Disorders. Consanguineous Marriage Social Custom Lack of Awareness.

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A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia

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  1. A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia Muhammad Ayub Asst.Professor in Biochemistry University of Balochistan Quetta

  2. Causes of Human Genetic Disorders • Consanguineous Marriage • Social Custom • Lack of Awareness

  3. Syndromic and non-syndromic teeth anomalies • Hypodontia • Oligodontia • Anodontia

  4. Mode of Inheritance • Autosomal dominant • Autosomal recessive • X-linked recessive

  5. Genes in tooth agenesis • PAX9,MSX1, AXIN2 are already known for autosomal dominant/recessive tooth abnormalities • EDA is known for X-linked recessive non-syndromic hypodontia

  6. Methods • Pedigree • Blood sampling • EDTA Vacutainer • Genomic DNA extraction • Phenol-chloroform method • Polymerase chain reaction • Genotyping • DNA sequencing

  7. Pedigree

  8. Clinical Features

  9. Methods • Blood sampling • EDTA Vacutainer • Genomic DNA extraction • Phenol-chloroform method • Polymerase chain reaction • Genotyping • DNA sequencing

  10. Methods • Genotyping of five generations Pakistani family with X-linked isolated hypodontia was ascertained • Linkage through microsatellite markers was established on Xq12-q13.1 • DNA sequence analysis (ABI 310 Genetic Analyzer) revealed a novel mutation in exon 8 (c.993G>C, p.Q331H)

  11. Linkage to Xq12-q13.1

  12. EDA gene sequencing H Q/H Q

  13. Conservation ofQ aa at 331in EDA tumor necrosis factor

  14. EDA gene mutations so far

  15. Ayub M, Rehman FU, Yasinzai M, Ahmad W. A novel missense mutation in the EDA gene underlies X-linked recessive non-syndromic hypodontia. Int J Dermatol (in press) impact factor 1.5

  16. AKNOLEDGMENTS Prof. Dr. Masoom Yasinzai Supervisor, Yasinzai,Vice Chancellor Quaid-i-Azam university islamabad Prof. Dr. Wasim Ahmad, Co-supervisor QAU, Islamabad Lab fellows The Family members who participated in the study

  17. Thank you

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