image based Q. 45- Absent bone

Q. - Anomaly with absence of this bone may be related to which of these gene locus?

1.       BMP (Bone Morphogenic Protein) receptor

2.       TGF beta 1

3.       PIT- X1

4.        RUN X 2

 Answer -

 The bone depicted here is clavicle.

Congenital absence of this bone is  a feature of disorder called ‘Cleidocranial dysplasia’ . 

RUNX 2 is reported to be linked with Cleidocranial dysplasia, the disorders with absent clavicle.