1 / 19

Consanguinity and Recessive Inheritance

Consanguinity and Recessive Inheritance. Sarah Maund - Cardiff SCOBEC Training Day - Case Reports 15 th Oct ‘08. MUTYH-associated polyposis (MAP). Recessive form of colorectal cancer. Patients develop colorectal carcinomas and these are no different from those seen in sporadic cases.

nedra
Download Presentation

Consanguinity and Recessive Inheritance

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Consanguinity andRecessive Inheritance Sarah Maund - Cardiff SCOBEC Training Day - Case Reports 15th Oct ‘08

  2. MUTYH-associated polyposis (MAP) • Recessive form of colorectal cancer. • Patients develop colorectal carcinomas and these are no different from those seen in sporadic cases. • Mostly present with carcinomas and the polyps are detected after colonoscopy. • More than 10 but less than thousands of polyps • Presents in the 5th or 6th decade. • Similar in presentation to FAP • Difficult to differentiate clinically from APC or certainly AFAP • Accounts for 20 to 30% of patients with polyposis coli in whom no mutations in the APC gene have been detected.

  3. MAP Mutations • MAP is caused by bi-allelic mutations in the MUTYH gene. • It spans 7.1kb and is made up of 16 exons. • Mutations identified throughout the MUTYH gene, • mostly point, splice and small deletions/insertions. • The two most common mutations identified to date are • c.527A>G (p.Tyr176Cys) & c.1178G>A (p.Gly393Asp) • considered mainly north western European. • There are also two other mutations • c.303C>G (p.Tyr101X) & c.1427G>T (p.Glu477X) • predominantly found in the ‘Asian’ population.

  4. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? Died of old age @ 106 Healthy throughout life Died in sleep age 88 ? ? ? ? ? ? ?

  5. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? Patient has 200+ polyps (colonic). No family history. MUTYH analysis requested.

  6. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? Y101X / Y101X

  7. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? Y101X / Y101X

  8. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  9. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  10. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? N / Y101X

  11. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  12. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  13. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  14. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  15. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  16. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  17. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  18. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

  19. Status Unknown Homozygous mutation Obligate Carrier Confirmed Carrier Mutation Negative ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ?

More Related