Mediterranean Founder Mutation Database (MFMD)

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Last update
21/6/2017

Phenotype: Ataxia-telangiectasia


OMIM: 208900
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

ATM || c.103C>T

Gene/Locus:    ATM
Dna Change:    c.103C>T
Protein Change:    p.Arg35X
Mutation Type:   
Mutation Effect:   
Location:    exon 3
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJews12 widely separated locations in Morocco32/33 risk alleles in Jewish families of North African origin (Morocco and Tunisia))NAGilad S et al., 1996Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y, . Ataxia-telangiectasia: founder effect among north African Jews.. Hum. Mol. Genet.. 1996; 5(12):2033-7
TunisiaJewscities of Nabil and Tunis32/33 risk alleles in Jewish families of North African origin (Morocco and Tunisia))NAGilad S et al., 1996Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y, . Ataxia-telangiectasia: founder effect among north African Jews.. Hum. Mol. Genet.. 1996; 5(12):2033-7

ATM || c.1339C>T

Gene/Locus:    ATM
Dna Change:    c.1339C>T
Protein Change:    p.Arg447x
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 10
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
LebanonDruzeNA1 familyNAFares F et al., 2004Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A, . Identification of two mutations for ataxia telangiectasia among the Druze community.. Prenat. Diagn.. 2004; 24(5):358-62

ATM || c.[6672_6673delGG;6677_6680delTACG]

Gene/Locus:    ATM
Dna Change:    c.[6672_6673delGG;6677_6680delTACG]
Protein Change:    p.Met2224_Arg2227del4insIleSer
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 48
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
LebanonDruzeNA1 familyNAFares F et al., 2004Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A, . Identification of two mutations for ataxia telangiectasia among the Druze community.. Prenat. Diagn.. 2004; 24(5):358-62

ATM || c.717_720delCCTC

Gene/Locus:    ATM
Dna Change:    c.717_720delCCTC
Protein Change:    p.Phe239LeufsX15
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 7
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.1607+1G>T

Gene/Locus:    ATM
Dna Change:    c.1607+1G>T
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 10
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.2250G>A

Gene/Locus:    ATM
Dna Change:    c.2250G>A
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:   
Location:    exon 14
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA3 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.2502_2503insA

Gene/Locus:    ATM
Dna Change:    c.2502_2503insA
Protein Change:    p.Val835SerfsX7
Mutation Type:    Insertion
Mutation Effect:    Frameshift
Location:    exon 17
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.2720_2723del

Gene/Locus:    ATM
Dna Change:    c.2720_2723del
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 18
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.3576G>A

Gene/Locus:    ATM
Dna Change:    c.3576G>A
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:   
Location:    exon 24
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA7 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.3802delG

Gene/Locus:    ATM
Dna Change:    c.3802delG
Protein Change:    p.Val1268X
Mutation Type:    Deletion
Mutation Effect:    Nonsense
Location:    exon 26
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA5 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.3894_3895insT

Gene/Locus:    ATM
Dna Change:    c.3894_3895insT
Protein Change:    p.Ala1299CysfsX3
Mutation Type:    Insertion
Mutation Effect:    Frameshift
Location:    exon 26
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA3 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.4396C>T

Gene/Locus:    ATM
Dna Change:    c.4396C>T
Protein Change:    p.Arg1466X
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 29
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.5979_5983delTAAAG

Gene/Locus:    ATM
Dna Change:    c.5979_5983delTAAAG
Protein Change:    p.Ser1993ArgfsX23
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 40
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA3 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.7408T>G

Gene/Locus:    ATM
Dna Change:    c.7408T>G
Protein Change:    p.Tyr2470Asp
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 50
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA5 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.7517_7520delGAGA

Gene/Locus:    ATM
Dna Change:    c.7517_7520delGAGA
Protein Change:    p.Arg2506ThrfsX3
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 51
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA10 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.8283_8284delTC

Gene/Locus:    ATM
Dna Change:    c.8283_8284delTC
Protein Change:    p.Gln2762AlafsX6
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 57
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA3 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.8977C>T

Gene/Locus:    ATM
Dna Change:    c.8977C>T
Protein Change:    p.Arg2993X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 62
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

ATM || c.9139C>T

Gene/Locus:    ATM
Dna Change:    c.9139C>T
Protein Change:    p.Arg3047X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 63
Transcript:    NM_000051.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/48 patientsNAChessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

References

Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.Ann. Hum. Genet.. 2009; 73(0):532-9

Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A, Identification of two mutations for ataxia telangiectasia among the Druze community.Prenat. Diagn.. 2004; 24(5):358-62

Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y, Ataxia-telangiectasia: founder effect among north African Jews.Hum. Mol. Genet.. 1996; 5(12):2033-7

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