Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review

Table 1 Summary of pathogenic heterozygous mutations of aggrecan gene

cDNA	Variant
c.223T>C	p.Trp75Arg
c.273del	p.Arg93fs
c.1172del	p.Gly391fs
c.1227del	p.Ser410fs
c.1425del	p.Val478fs
c.1745del	p.Phe582fs
c.2026+1G>A	-
c.2541del	p.Val848fs
c.3758dup	p.Gly1254fs
c.4138G>T	p.Val1380Phe
c.4186del	p.Ser1396fs
c.4657G>T	p.Glu1553Ter
c.5061T>A	p.Ser1687Arg
c.5337del	p.Phe1780fs
c.5391del	p.Gln1798fs
c.5491_5500del	p.Phe1831fs
c.6534del	p.Thr2179fs
c.7178T>C	p.Leu2393Pro
c.7204C>T	p.Gln2402Ter
c.7255G>A	p.Asp2419Asn
c.7317G>A	p.Trp2439Ter
c.7363G>A	p.Val2455Met

Arg: Arginine; Asn: Asparagine; Asp: Aspartic acid; Del: Deletion; dup: Duplication; Gln: Glutamine; Glu: Glutamic acid; Gly: Glycine; fs: Frameshift; Leu: Leucine; Met: Methionine; Phe: Phenylalanine; Pro: Proline; Ser: Serine; Ter: Termination codon; Thr: Threonine; Trp: Tryptophan; Val: Valine.