ABBREVIATIONS: Inheritance/Gene ABBREVIATIONS: Mutation
AD
AR
A
CGS
XD
XR
X
autosomal dominant
autosomal recessive
autosomal
Continuous Gene Syndrome
X−linked dominant
X−linked recessive
X−linked
P(MS)
P(NS)
P(SS)
P
Del
Ins
Dup
point mutation (missense)
point mutation (nonsense)
point mutation (splice site)
any point mutation
deletion
insertion
duplication
Tloc
Rearr
Lg
Sm
TS
TV
CpG
translocation
rearrangement
large (>20 bp)
small (<20 bp)
transition
transversion
CpG mutation

Disorder
Inheritance
Incidence
Gene
Chrom
Pat.Age Effect
Mat.Age Effect
Recurrent mutations
Mutation Type
TS/TV
No of Paternal Cases
No of Maternal Cases
Reference
Apert AD 1/160,000 FGFR2 10q26 Y N S252W (C→G), P253R (C→G) P (MS) − CpG TV 57 0 Moloney DM, et al (1996)
Achondroplasia AD 1/10,000 FGFR3 4p16.3 Y N G380R (G→A), G380R (G→C) P (MS) − CpG TS, TV 40 0 Wilkin DJ (1998)
Crouzon AD 1.5/1,000,000 FGFR2 10q26 Y N C342Y (G→A) P (MS) TS 4 0 Glaser RL (2000)
Crouzon AD 1.5/1,000,000 FGFR2 10q26 Y N P (MS) TV 5 0 Glaser RL (2000)
Crouzon AD 1.5/1,000,000 FGFR2 10q26 Y N A344A (G→A) P (SS) TS 2 0 Glaser RL (2000)
Pfeiffer AD < 1/100,000 FGFR2 10q26 Y N C278F (G→T),C342R (T→C) P (MS) TS 5 0 Glaser RL (2000)
Pfeiffer AD < 1/100,000 FGFR2 10q26 Y N P (MS) TV 5 0 Glaser RL (2000)
Pfeiffer AD < 1/100,000 FGFR2 10q26 Y N P (SS) TV 1 0 Glaser RL (2000)
MEN 2A, MTC AD RET 10q11.2 Y N C634R (T→C) P (MS) TS 5 0 Schuffenecker I, et al (1997)
MEN 2A, MTC AD RET 10q11.2 Y N P (MS) TV 1 0 Schuffenecker I, et al (1997)
MEN 2A, MTC AD RET 10q11.2 C634R (T→C) P (MS) TS 1 0 Zedenius J, et al (1994)
MEN 2A, MTC AD RET 10q11.2 C634R (T→C) P (MS) TS 1 0 Mulligan LM, et al (1994)
MEN 2A, MTC AD RET 10q11.2 C634R (T→C) P (MS) TS 2 0 Wohllk N, et al (1996)
MEN 2A, MTC AD RET 10q11.2 Y N C620R (T→C) P (MS) TS 1 0 Schuffenecker IN, et al (1997)
Alagille syndrome AD 1/100,000 JAG1 20p12 Lg del 1 0 Deleuze JF et al, (1994)
Alagille syndrome AD 1/100,000 JAG1 20p12 Del 1 0 Krantz ID, et al (1997)
Hutchinson-Gilford Progeria syndrome AD LMNA 1q21.2 Y N E145K (G→A) P (MS) TS 1 0 Eriksson M et al (2003)
Hutchinson-Gilford Progeria syndrome AD LMNA 1q21.2 Y N G608G (C→T) P (MS) − CpG TS 4 0 Eriksson M et al (2003)
Hutchinson-Gilford Progeria syndrome AD LMNA 1q21.2 Y N G608G (C→T) P (MS) − CpG TS 3 0 D'Apice MR et al (2004)
Sporadic NF2 AD 1/40,000 NF2 22q12.2 1396C→T, 586C→T, 169C→T P(NS) TS 5 6 Kluwe L et al (2000)
Sporadic NF2 AD 1/40,000 NF2 22q12.2 P (NS) TV 2 0 Kluwe L et al (2000)
Sporadic NF2 AD 1/40,000 NF2 22q12.2 P (SS) TS 1 3 Kluwe L et al (2000)
Sporadic NF2 AD 1/40,000 NF2 22q12.2 P (SS) TV 5 1 Kluwe L et al (2000)
Sporadic NF2 AD 1/40,000 NF2 22q12.2 Sm dl 8 1 Kluwe L et al (2000)
Sporadic NF2 AD 1/40,000 NF2 22q12.2 Sm ins 1 1 Kluwe L et al (2000)
Sporadic NF2 AD 1/40,000 NF2 22q12.2 Rearran 0 1 Kluwe L et al (2000)
Del 14 A CGS 14q11-q22 Y Lg del 2 0 Shapira SK et al (1994)
Del 14 A CGS 14q22.1-22.3 Lg del 1 0 Elliott J et al (1993)
Del 14 A CGS 14q31 Lg del 2 0 Byth BC et al (1995)
Del 14 A CGS 14q32-q33 Lg del 0 1 Hreidarsson SJ et al (1983)
Del 14 A CGS 14q32.3 Y Y Lg del 0 1 Telford N et al (1990)
Del 14 A CGS 14q12-q13.1 Lg del 0 1 Petek E et al (2003)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 Lg dup 2 0 Wise CA et al (1993)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 Lg dup 1 0 Raemaekers P et al (1991)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 Lg dup 9 0 Palau F et al (1993)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 N Lg dup 32 2 Lopes J et al (1998)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 Lg dup 7 1 Blair IP et al (1996)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 Lg dup 4 1 Bort S et al (1997)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 Lg dup 1 0 Hertz JM et al (1994)
Charcot-Marie-Tooth 1A AD 1/2500 (all forms of CMT) PMP22 17p11.2 -p12 P (MS) TV 1 0 Roa BB et al (1993)
Cri-du-chat AD 1/20,000 - 50,000 CGS 5p15.2 - p15.3 Lg del 20 5 Overhauser J et al (1990)
Cri-du-chat AD 1/20,000 - 50,000 CGS 5p15.2 - p15.3 Lg del 55 6 Mainardi PC et al (2001)
Cri-du-chat AD 1/20,000 - 50,000 CGS 5p15.2 - p15.3 Lg del 10 2 Church DM et al (1995)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 Inv 69 1 Antonarakis SE et al (1995)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 N P (MS), P (NS), Inv, Del, Ins 15 1 Ljung RC et al (1999)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 N P (MS) TS 2 1 Becker J et al (1996)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 Y P (MS) TV 2 0 Becker J et al (1996)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 Y P (NS) TS 4 1 Becker J et al (1996)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 Y Inv 7 2 Becker J et al (1996)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 Y Dl 0 2 Becker J et al (1996)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 N RFLPs 15 7 Brocker-Vriends AN et al (1991)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 Inv 20 0 Rossiter JP et al (1994)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 N Lg del 2 3 Youssoufian H et al (1998)
Hemophilia A XR 1/5,000-10,000 males FVIII Xq28 Rearran 0 3 Youssoufian H et al (1998)
MEN 2B AD RET 10q11.2 M918T (T→C) P(MS) TS 25 0 Carlson KM et al (1994)
MEN 2B AD RET 10q11.2 Y M918T (T→C) P(MS) TS 0 2 Kitamura Y et al (1995)
Wolf-Hirschhorn syndrome, Pitt-Rodgers-Danks syndrome A 1/50,000 WHSC1* 4p16.3 Lg del 27 4 Wieczorek D et al (2000)
Pelizaeus-Merzbacher Disease XD PLP Xq21-q22 N Lg dup 11 1 Mimault C et al (1999)
Pelizaeus-Merzbacher Disease XD PLP Xq21-q22 P 4 1 Mimault C et al (1999)
Miller-Dieker syndrome AD very rare CGS 17p13.3 Del 7 4 Dobyns WB et al (1991)
Miller-Dieker syndrome AD very rare CGS 17p13.3 Tloc 1 0 Dobyns WB et al (1991)
Miller-Dieker syndrome AD very rare CGS 17p13.3 Lg del 2 1 Schwartz CE et al (1998)
Miller-Dieker syndrome AD very rare CGS 17p13.3 Lg del 3 0 vanTuinen P et al (1988)
Nephrogenic diabetes insipidus X AVPR2 Xq28 P (MS), P (NS), sm del, sm ins 16 1 Arthus MF et al (2000)
Langer-Giedion syndrome (TRPS II) AD TRPSI, EXTI, * 8q24.11-q24.13 Lg del 0 1 Ludecke HJ et al (1989)
Langer-Giedion syndrome (TRPS II) AD TRPSI, EXTI, * 8q24.11-q24.13 Lg del 6 2 Nardmann J et al (1997)
Ornithine transcarbamylase deficiency X 1/80,000 OTC Xp21.1 1 0 Pelet A et al (1990)
Ornithine transcarbamylase deficiency X 1/80,00 OTC Xp21.1 Del, P 4 2 Liechti-Gallati S et al (1991)
Del 9p CGS 9p Lg del 9 4 Micale MA et al (1995)
Del 9p CGS 9p Lg del 1 0 Olivieri C et al (2003)
Familial adenomatous polyposis AD 1/13,500-1/21,500 APC 5q21 N Sm del, P 4 6 Ripa R et al (2002)
Familial adenomatous polyposis AD 1/13,500-1/21,500 APC 5q21 Sm del 4 4 Aretz S et l (2004)
Familial adenomatous polyposis AD 1/13,500-1/21,500 APC 5q21 Lg del 3 0 Aretz S et l (2004)
Familial adenomatous polyposis AD 1/13,500-1/21,500 APC 5q21 P (NS) TS 2 0 Aretz S et l (2004)
Familial adenomatous polyposis AD 1/13,500-1/21,500 APC 5q21 P (NS) TV 2 0 Aretz S et l (2004)
Familial adenomatous polyposis AD 1/13,500-1/21,500 APC 5q21 P TS 1 0 Aretz S et l (2004)
Noonan syndrome AD 1/1,000-1/2,500 PTPN11 12q24.1 Y P (MS) TS 3 0 Tartaglia M et al (2004)
Noonan syndrome AD 1/1,000-1/2,500 PTPN11 12q24.1 Y c922A→G P (MS) TS 10 0 Tartaglia M et al (2004)
Noonan syndrome AD 1/1,000-1/2,500 PTPN11 12q24.1 Y P (MS) TV 1 0 Tartaglia M et al (2004)
Muenke syndrome AD 1/30,000 FGFR3 4p16.3 Y c749C→G P (MS) − CpG TV 10 0 Rannan-Eliya SV et al (2004)
Treacher-Collins Syndrome AD 1/50,000 TCOF1 5q32 N N c.4135-4139delGAAAA Sm del 1 3 Splendore A et al (2004)
Treacher-Collins Syndrome AD 1/50,000 TCOF1 5q32 N N Sm del 5 0 Splendore A et al (2004)
Treacher-Collins Syndrome AD 1/50,000 TCOF1 5q32 N N Sm ins 1 0 Splendore A et al (2004)
Hirschsprung AD 1/5,000 RET 10q11.2 N P (MS) TS 0 3 Yin L et al (1996)
Hirschsprung 1/5,000 RET 10q11.2 N Sm del 1 0 Yin L et al (1996)
Hirschsprung 1/5,000 RET 10q11.2 N Lg del 1 0 Yin L et al (1996)
Alport syndrome (hereditary nephritis) XD COL4A5 Xq22.3 P (SS) TS 1 0 Hertz JM et al (2001)
Alport syndrome (hereditary nephritis) XD COL4A5 Xq22.3 P (NS) TS 1 0 Hertz JM et al (2001)
Alport syndrome (hereditary nephritis) XD COL4A5 Xq22.3 Sm del 0 1 Hertz JM et al (2001)
beta-thalassemia AD HBB 11p15.5 Y Sm del 1 0 Chehab FF et al (1989)
gamma-delta-beta-thalassemia AD HBB 11p15.5 Lg del 0 1 Driscoll MC et al (1989)
Dup 9p AD CGS 9p Dup 2 0 Kotzot D et al (2000)
Dup 9p AD CGS 9p Dup 1 1 Tsezou A et al (2000)
Dup 9p AD CGS 9p Dup 1 2 Krepischi-Santos ACV et al (2003)
De novo rearrangements N Rearran 13 4 Chamberlin J and Magenis RE (1980)
De novo translocations N Tloc 7 13 Chamberlin J and Magenis RE (1980)
Bisatellited chrom 15 Y Rearran 0 5 Chamberlin J and Magenis RE (1980)
HNPP PMP22 17p11.2-p12 Lg del 0 2 Lopes J et al (1998)
HNPP PMP22 17p11.2-p12 Lg del 4 1 LeGuern E et al (1996)
von Hippel-Lindau AD 1/36,000 VHL 3p25-p26 N Lg del 3 3 Richards FM et al (1995)
von Hippel-Lindau AD 1/36,000 VHL 3p25-p26 N P (MS) − CpG TS 2 0 Richards FM et al (1995)
von Hippel-Lindau AD 1/36,000 VHL 3p25-p26 N P (MS) TS 0 1 Richards FM et al (1995)
von Hippel-Lindau AD 1/36,000 VHL 3p25-p26 N P (MS) TV 1 2 Richards FM et al (1995)
von Hippel-Lindau AD 1/36,000 VHL 3p25-p26 N P (SS) TV 1 0 Richards FM et al (1995)
Del 1p36 A 1/5,000 CGS 1p36 Lg del 3 10 Shapira SK et al (1997)
Del 1p36 A 1/5,000 CGS 1p36 Lg del 16 24 Heilstedt HA et al (2003)
Tuberous sclerosis AD 1/6,000-1/10,000 TSC2 16p13 N P (MS) TS 2 1 Roberts PS et al (2002)
Tuberous sclerosis AD 1/6,000-1/10,000 TSC2 16p13 N P (MS) TV 0 2 Roberts PS et al (2002)
Tuberous sclerosis AD 1/6,000-1/10,000 TSC2 16p13 N Sm del 3 2 Roberts PS et al (2002)
Tuberous sclerosis AD 1/6,000-1/10,000 TSC2 16p13 N Lg del 0 2 Roberts PS et al (2002)
TRPS I AD TRPS I, * 8q24.12 Lg del 0 1 Nardmann J et al (1997)
Del 22q11 AD 1/2,000-1/4,000 CGS 22q11.2 Lg del 9 9 Eliez S et al (2001)
Del 22q11 22q11.2 Lg del 8 24 Demczuk S et al (1995)
Del 22q11 22q11.2 Lg del 18 61 Ryan AK et al (1997)
Del 22q11 22q11.2 Lg del 5 10 Chung MY et al (2001)
Del 22q11 22q11.2 Lg del 4 5 Fokstuen S et al (1998)
Del 22q11 22q11.2 N Lg del 13 24 Matsuoka R et al (1998)
Del 22q11 22q11.2 Lg del 5 10 Morrow B et al (1995)
Del 22q11 22q11.2 Lg del 3 10 Lu JH et al (1999)
DiGeorge syndrome AD 1/4,000 CGS 22q11.2 Lg del 7 4 Matsuoka R et al (1998)
DiGeorge syndrome AD 1/4,000 CGS 22q11.2 Lg del 1 3 Saitta SC et al (2004)
Williams syndrome AD 1/20,000-50,000 ELN, * 7q11.23 Lg del 93 118 Wang MS et al (1999)
Pallister-Killian Syndrome AD CGS 12p tetrasomy 1 7 Antonella V et al (2004)
Del 3p AD CGS 3p11 Lg del 1 0 Petek E et al (2003)
Duchenne and Becker Muscular Dystrophies XR 1/3500 males DMD Xp21.2 Dup 4 1 Hu X et al (1990)
Duchenne and Becker Muscular Dystrophies XR 1/3500 males DMD Xp21.2 Lg del 5 30 Bakker et al (1989)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 Lg del 1 6 Lopez Correa et al (2000)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 Lg del 13 37 Upadhyaya M et al (1998)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 Lg del 0 3 Upadhyaya M et al (1995)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 Lg del 2 13 Lopez Correa et al (1999)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 Lg del 2 1 Kayes LM et al (1994)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 P, sm del, sm in 9 2 Lazaro C et al (1996)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 P, sm del, sm in 10 0 Stephens K et al (1992)
Neurofibromatosis 1 AD 1/3,500 NF1 17q11.2 P, sm del, sm in 12 2 Jadayel D et al (1990)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 R294X P (MS) − CpG TV 0 1 Girard M et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 R294X P (NS) − CpG TS 4 0 Girard M et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 Sm ins 0 1 Girard M et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 Sm del 1 0 Girard M et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 R168X (C→T) R270X (C→T) P (NS) − CpG TS 2 1 Amir RE et al (2000)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 N P (MS) − CpG TS 7 1 Trappe R et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 N P (MS) TV 1 0 Trappe R et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 N c502C→T, R270X (C→T), c880C→T P (NS) − CpG TS 13 0 Trappe R et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 N P (NS) TV 1 0 Trappe R et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 N P (SS) TS 1 0 Trappe R et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 N Sm ins 1 0 Trappe R et al (2001)
Rett syndrome XD 1/10,000-1/15,000 females MECP2 Xq28 N Sm del 2 0 Trappe R et al (2001)
Bilateral retinoblastoma AD 1/20,000 RB1 13q14 N Lg del 8 0 Dryja TP et al (1989)
Bilateral retinoblastoma AD 1/20,000 RB1 13q14 Lg del 4 1 Zhu X et al (1989)
Bilateral retinoblastoma AD 1/20,000 RB1 13q14 Lg del 4 1 Ejima Y et al (1988)
Bilateral retinoblastoma AD 1/20,000 RB1 13q14 Tloc 3 0 Ejima Y et al (1988)
Bilateral retinoblastoma AD 1/20,000 RB1 13q14 Lg del 1 0 Horsthemke B et al (1987)
Unilateral retinoblastoma AD 1/20,000 RB1 13q14 N Lg del 3 4 Dryja TP et al (1989)
Unilateral retinoblastoma AD 1/20,000 RB1 13q14 Lg del 1 2 Zhu X et al (1989)
Unilateral retinoblastoma AD 1/20,000 RB1 13q14 Lg del 1 0 Ejima Y et al (1988)
Unilateral retinoblastoma AD 1/20,000 RB1 13q14 P, Lg del 7 0 Kato MV et al (1994)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 Y Y P − CpG TS 6 3 Ketterling RP et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 Y P TS 7 3 Ketterling RP et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 Y P TV 11 8 Ketterling RP et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 Y Sm del, Sm ins 1 7 Ketterling RP et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 Y Lg del 1 5 Ketterling RP et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 P − CpG TS 8 12 Green PM et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 P TS 11 12 Green PM et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 P TV 11 13 Green PM et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 Sm del, Sm ins 4 6 Green PM et al (1999)
Hemophilia B XR 1/30,000 FIX Xq27.1-27.2 Lg del 2 3 Green PM et al (1999)
Lhermitte-Duclos AD PTEN 10q23 Sm del 1 0 Delatycki MB et al (2003)
Sotos syndrome AD NSD1 5q35 N Lg del 18 2 Miyake N et al (2003)
Hereditary hemorrhagic telangiectasia / Rendu-Osler-Weber syndrome AD >1/10,000 ENG 9q33-q34 Sm del 1 0 Lastella P et al (2003)
Rett-like syndrome and autism AD CGS 2q34 Lg del 1 0 Pescucci C et al (2003)
Congenital deafness A CGS 12q22-q24.1 N N Lg del 1 0 Petek E et al (2003)
Supernumerary marker 15 A 0.3/1,000 CGS 15 Rearran 0 37 Roberts SE et al (2003)
Situs ambiguus X ZIC3 Xq26.2 Y Y Tloc 1 0 Fritz B et al (2005)
Childhood hypophosphatasia ALPL 1p36.1 P (MS) TV 1 0 Taillandier A et al (2005)
Diamond-Blackfan anemia AD RPS19 19q13.2 P (MS) TS 1 0 Orfali KA et al (2004)
Diamond-Blackfan anemia AD RPS19 19q13.2 P (NS) TS 1 0 Orfali KA et al (2004)

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