Disorders Involving Transcription Factors

Published on 22/03/2015 by admin

Filed under Pediatrics

Last modified 22/03/2015

Print this page

rate 1 star rate 2 star rate 3 star rate 4 star rate 5 star
Your rating: none, Average: 0 (0 votes)

This article have been viewed 908 times

Chapter 689 Disorders Involving Transcription Factors

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

Buy Membership for Pediatrics Category to continue reading. Learn more here