Table 1 Mutations in the CTSK gene causing pycnodysostosis

Missense

Exon 2

g.1551T > C

c.20T > C

p.Leu7Pro

Pre

Donnarumma, et al., 2007

Exon 2

g.1557T > C

c.26T > C

p.Leu9Pro

Pre

Nishi, et al., 1999

Exon 3

g.2128C > T

c.136C > T

p.Arg46Trp

Pro

Schilling, et al., 2007

Exon 3

g.2227G > A

c.235G > A

p.Gly79Arg

Pro

Fratzl-Zelman, et al., 2004

Exon 3

g.2228G > A

c.236G > A

p.Gly79Glu

Pro

Hou, et al., 1999

Exon 5

g.4120C > T

c.422C > T

p.Ala141Val

Mature

Chavassieux, et al., 2008

Exon 5

g.4134G > C

c.436G > C

p.Gly146Arg

Mature

Gelb, et al., 1996

Exon 5

g.4192A > G

c.494A > G

p.Gln165Arg

Mature

Donnarumma, et al., 2007

Exon 5

g.4258A > C

c.560A > C

p.Gln187Pro

Mature

Li, et al., 2009

Exon 5

g.4278G > A

c.580G > A

p.Gly194Ser

Mature

Donnarumma, et al., 2007

Exon 6

g.8644A > G

c.635A > G

p.Tyr212Cys

Mature

Hou, et al., 1999

Exon 6

g.8737 G > A

c.728G > A

p.Gly243Glu

Mature

Khan et al., 2010

Exon 6

g.8755T > C

c.746T > C

p.Ile249Thr

Mature

Donnarumma, et al., 2007

Exon 6

g.8758A > G

c.749A > G

p.Asp250Gly

Mature

Donnarumma, et al., 2007

Exon 7

g.9109C > T

c.830C > T

p.Ala277Val

Mature

Gelb, et al., 1998

Exon 7

g.9109C > A

c.830C > A

p.Ala277Glu

Mature

Hou, et al., 1999

Exon 7

g.9171T > C

c.892T > C

p.Trp298Arg

Mature

Nishi, et al., 1999

Exon 8

g.9186G > A

c.908G > A

p.Gly303Glu

Mature

Toral-Lopez et al., 2010

Exon 8

g.11474T > C

c.926T > C

p.Leu309Pro

Mature

Haagerup, et al., 2000

Exon 8

g.11479G > C

c.931G > C

p.Ala311Pro

Mature

Nishi, et al., 1999

Exon 8

g.11482C > G

c.934C > G

p.Arg312Gly

Mature

Hou, et al., 1999

Exon 8

g.11501G > A

c.953G > A

p.Cys318Tyr

Mature

Bertola et al., 2010

Exon 8

g.11503G > T

c.955G > T

p.Gly319Cys

Mature

Donnarumma, et al., 2007

Nonsense

Exon 3

g.2146A > T

c.154A > T

p.Lys52X

Pro

Hou, et al., 1999

Exon 5

g.4266C > T

c.568C > T

p.Gln190X

Mature

Hou, et al., 1999

Exon 6

g.8730C > T

c.721C > T

p.Arg241X

Mature

Gelb, et al., 1996

Frameshifts (duplication)

Exon 2

g.1591-1592dupGA

c.60_61dupGA

p.Ile21ArgfsX29

Pro

Donnarumma, et al., 2007

Exon 4

g.2359dupA

c.282dupA

p.Val95SerfsX9

Pro

Donnarumma, et al., 2007

Frameshifts (deletion)

Exon 3

g.2230delG

c.238delG

p.Asp80ThrfsX2

Pro

Fratzl-Zelman, et al., 2004

Exon 5

g.4124delT

c.426delT

p.Phe142LeufsX19

Mature

Fujita, et al., 2000

Splicing

Intron2

g.2112G > A

c.121-1G > A

p.del41Val-81Met

Pro

Haagerup, et al., 2000

Exon 7

g.9169G > A

c.890G > A; 785_890del

p.Gly262AlafsX70

Mature

Donnarumma, et al., 2007

Stop codon

Exon 8

g.11538A > G

c.990A > G

p.X330TrpextX19

Mature

Gelb, et al., 1996