Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Table 1 Overview of currently known TGFB2 mutations

Exon	^ac-notation	^bp-notation	Domain	Reference
1	c.294_308del	p.Ala100_Tyr104del	LAP	[16]
1	c.297C > A	p.Tyr99*	LAP	[16]
1	c.304G > T	p.Glu102*	LAP	[17]
3	c.475C > T	p.Arg159*	LAP	[18]
5	c.771C > A	p.Cys257*	LAP	[17]
6	c.839-1G > A	*p.Gly280Aspfs41**	LAP	Current study
6	c.957_972dup	p.Asn325*	LAP	[17]
6	c.979C > T	p.Arg327Trp	LAP	[16],[18]
6	c.980G > A	p.Arg327Gln	LAP	[18]
6	c.988C > T	p.Arg330Cys	LAP	[16]
7	c.1097C > A	p.Pro366His	Cyt	[16]
7	c.1106_1110del	p.Tyr369Cysfs*26	Cyt	[16],[17]
7	c.1125del	p.Gly376Glufs*17	Cyt	[18]
7	c.1165dupA	p.Ser389Lysfs*8	Cyt	[19]
Entire gene Chr1.hg19: g.(215,588,712)_(222,145,072)del				[16]
Entire gene Chr1.hg19: g.(216,672,181)_(220,202,575)del				[16]

^aDNA mutation numbering is based on the cDNA sequence. For cDNA numbering, +1 corresponds to the A of the ATG translation initiation codon in the reference sequence. The reference sequence is based on the GenBank Accession number: TGFB2 NM_001135599.2. ^bFor protein numbering, +1 corresponds to the first translated amino acid. The reference sequence is based on the GenBank Accession number: TGFB2 NP_001129071.1. Abbreviations: LAP Latency-associated peptide domain, Cyt TGF-β2 cytokine domain.

ISSN: 1471-2350