. Author manuscript; available in PMC: 2014 Jul 22.

Published in final edited form as: Hum Mutat. 2012 Aug 13;34(1):111–121. doi: 10.1002/humu.22165

Table 1.

Mutations in the FBLN5 and LTBP4 gene identified in this study

Family	Gene	cDNA	Protein	Type	Domain
Family A	*FBLN5*	c.1171G>T	p.Glu391X	Nonsense	FBLN specific domain

Family B	*FBLN5*	c.649T>C	p.Cys217Arg	Missense	4th cbEGF-like domain

Family C	*LTBP4*	c.1342C>T	p.Arg448X	Nonsense	1st 8-Cys domain
Family C	*LTBP4*	c.4115dupC	p.Tyr1372Ilefs*2	Frameshift - PTC	3rd 8-Cys domain

Family D	*LTBP4*	c.2408C>A	p.Ser803X	Nonsense	7th EGF-like domain

Family E	*LTBP4*	c.3661C>T	p.Gln1221X	Nonsense	2nd 8-Cys domain
Family E	*LTBP4*	c.3886C>T	p.Gln1296X	Nonsense	14th EGF-like domain

Family F	*LTBP4*	c.780+2T>G	NA	Splicesite	-

Family G	*LTBP4*	c.1263delC	p.Cys422Alafs*352	Frameshift - PTC	1st 8-Cys domain

Family H	*LTBP4*	c.1851C>A	p.Cys617X	Nonsense	2nd EGF-like domain

Family I	*LTBP4*	c.4127dupC	p.Arg1377Alafs*27	Frameshift - PTC	3rd 8-Cys domain

Family J	*LTBP4*	c.4129C>T	p.Arg1377X	Nonsense	3rd 8-Cys domain

Family K	*LTBP4*	c.3556T>C	p.Cys1186Arg	Missense	2^nd 8-Cys domain

Mutation nomenclature refers to the FBLN5 (NM_006329.3) and LTBP4 (NM_003573.2) reference sequences. For cDNA numbering, +1 corresponds to the A of the ATG translation initiation codon. For protein numbering, +1 corresponds to the first translated methionine. PTC, premature truncation; EGF-like, epidermal growth factor-like; cb, calcium binding.