Answered: mutation in the TCOF1 gene causes up to…

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Please summarize and make the following paragraph about treacher collins syndrome disease into important bullet points. Thank you!! A 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.

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