TABLE 2.

List of mutations reported in the BMPR1B gene resulting in acromesomelic dysplasia phenotypes

S. No	Amino acid change	Nucleotide change	Mutation type	Reported phenotype	Reference
1	p.Arg31Cys	c.91C> T	Missense	Chondrodysplasia, DuPan type	Stange etal. (2015)
2	p.Cys53Arg	c.157T> C	Missense	Acromesomelic chondrodysplasia, Grebe type	Graul-Neumann et al. (2014)
3	p.Trp219Term	c.657G > A	Stop codon	Acromesomelic chondrodysplasia, Grebe type	Graul-Neumann et al., 2014
4		c.361_368delGGACCTAT	Small deletions	Acromesomelic chondrodysplasia, genital anomalies	Demirhan et al., 2005
5	p.Met397Arg	c.1190T> G	Missense	Acromesomelic dysplasia Hunter-Thompson type	Present study