Chapter 689 Disorders Involving Transcription Factors William A. Horton, Jacqueline T. Hecht There are three disorders involving transcription factors that result in bone dysplasias. One, campomelic dysplasia, is historically considered a chondrodysplasia. The other two, cleidocranial dysplasia and nail-patella syndrome, have been regarded as dysostoses, or abnormalities of single bones. The mutant genes that encode these transcription factors are SOX9, RUNX2 (CBFA1), and LMX1B, respectively, and are members of much larger gene families. For instance, SOX9 is a member of the SOX family of genes related to the SRY (sex-determining region of the Y chromosome) gene; RUNX2 (CBFA1) belongs to the runt family of transcription factor genes, and LMX1B is one of the LIM homeodomain gene family. All three disorders are due to haploinsufficiency of the respective gene products; the disorders are dominant traits. For familial cases of cleidocranial dysplasia and nail-patella syndrome, prenatal diagnosis is possible if the mutations are identified. Campomelic dysplasia results from new mutational events and has a low risk of recurrence in subsequent pregnancies. Campomelic Dysplasia Only gold members can continue reading. Log In or Register to continue Share this:Click to share on Twitter (Opens in new window)Click to share on Facebook (Opens in new window) Related Related posts: Embryology, Anatomy, and Function of the Esophagus Lymphadenopathy Hansen Disease (Mycobacterium leprae) Molecular and Cellular Biology of Cancer Stay updated, free articles. Join our Telegram channel Join Tags: Nelson Textbook of Pediatrics Expert Consult Jun 18, 2016 | Posted by admin in PEDIATRICS | Comments Off on Disorders Involving Transcription Factors Full access? Get Clinical Tree
Chapter 689 Disorders Involving Transcription Factors William A. Horton, Jacqueline T. Hecht There are three disorders involving transcription factors that result in bone dysplasias. One, campomelic dysplasia, is historically considered a chondrodysplasia. The other two, cleidocranial dysplasia and nail-patella syndrome, have been regarded as dysostoses, or abnormalities of single bones. The mutant genes that encode these transcription factors are SOX9, RUNX2 (CBFA1), and LMX1B, respectively, and are members of much larger gene families. For instance, SOX9 is a member of the SOX family of genes related to the SRY (sex-determining region of the Y chromosome) gene; RUNX2 (CBFA1) belongs to the runt family of transcription factor genes, and LMX1B is one of the LIM homeodomain gene family. All three disorders are due to haploinsufficiency of the respective gene products; the disorders are dominant traits. For familial cases of cleidocranial dysplasia and nail-patella syndrome, prenatal diagnosis is possible if the mutations are identified. Campomelic dysplasia results from new mutational events and has a low risk of recurrence in subsequent pregnancies. Campomelic Dysplasia Only gold members can continue reading. Log In or Register to continue Share this:Click to share on Twitter (Opens in new window)Click to share on Facebook (Opens in new window) Related Related posts: Embryology, Anatomy, and Function of the Esophagus Lymphadenopathy Hansen Disease (Mycobacterium leprae) Molecular and Cellular Biology of Cancer Stay updated, free articles. Join our Telegram channel Join Tags: Nelson Textbook of Pediatrics Expert Consult Jun 18, 2016 | Posted by admin in PEDIATRICS | Comments Off on Disorders Involving Transcription Factors Full access? Get Clinical Tree
