Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function

Table 1 Clinical Manifestations and radiological findings of the 3 children

Patient ID	Origin	weeks of gestation	Birth Weight	Sex	Age	Height/Weight	Dislocation of joint	Hand	Heart	Spine	Orthopedic surgery	Heart surgery	Mutations
Child 1	Chinese Han	Term delivery	?	Female	16 years	142 cm/32 kg	–	?	?	?	–	–	c.594G > A and c.734C > T
Child 2	Chinese Han	Term delivery	2.4 kg	Male	13 years	?/24 kg	Hip, Metacarpophalangeal (mp), distal finger	Bifurcation of the distal phalanx of the first finger	Mitral valve prolapse with severe insufficiency	Lumbar vertebra scoliosis	+	+	c.594G > A and c.734C > T
Child 3	Chinese Han	Term delivery	2.2 kg	Female	8 years	?/18 kg	Hip, Metacarpophalangeal (mp), distal finger (toe)	Bifurcation of the distal phalanx of the first finger	Mitral insufficiency, Atrial septal defect	–	+	+	c.594G > A and c.734C > T

ISSN: 1750-1172