mutation in the TCOF1 gene causes up to 93% of Treacher Collins syndrome cases. This gene, which is found on chromosome 5, is in charge of facial developnent. TCOF1 changes spontaneously in around half of all cases at conception, but no one knows what causes the change. In addition, Treacher Collins syndrome is inherited as an autosomal dominant condition in some cases. This indicates that the child inherits the Treacher Collins syndrome gene from one parent and an unaffected copy from the other. Changes in the POLRIC and POLRID genes may be responsible for another 2% of instances. It's unclear how the mutations in the genes create facial abnormalities. However, during weeks three to eight of embryonic development, they are thought to trigger apoptosis (cell death) of facial bone, cartilage, and soft tissue.

mutation in the TCOF1 gene causes up to 93% of Treacher Collins syndrome cases. This gene, which is found on chromosome 5, is in charge of facial developnent. TCOF1 changes spontaneously in around half of all cases at conception, but no one knows what causes the change. In addition, Treacher Collins syndrome is inherited as an autosomal dominant condition in some cases. This indicates that the child inherits the Treacher Collins syndrome gene from one parent and an unaffected copy from the other. Changes in the POLRIC and POLRID genes may be responsible for another 2% of instances. It's unclear how the mutations in the genes create facial abnormalities. However, during weeks three to eight of embryonic development, they are thought to trigger apoptosis (cell death) of facial bone, cartilage, and soft tissue.

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter12: Genes And Cancer

Section: Chapter Questions

Problem 3CS: Mike was referred for genetic counseling because he was concerned about his extensive family history...

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