Chapter 18, Problem 1CS

Summary Introduction

To determine:

 That how a dominant mutation in a gene encoding a transcription factor leads to a developmental malformation

Introduction:

Rocker bottom foot or congenital vertical talus (CVT) is the congenital disorder of the foot which is usually diagnosed at the birth stage of the individual. This disease is characterized by the dislocation of the talus bone in the foot which is usually present in between the tibia and fibula of the lower leg. It is associated with a neurological disorder like spina bifida.

Clawfoot or Charcot-Marie-Tooth disease (CMT) is the inherited disorder and deformity is associated with peripheral nerves that are located within the legs. It is also called as sensory neuropathy. It is usually associated with loss of sensation, difficulty in walking, and high arches