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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Fanconi anemia, complementation group A

OMIM: 227650
Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

FANCA || c.890_893delGCTG

Gene/Locus:	FANCA
Dna Change:	c.890_893delGCTG
Protein Change:	p.Trp298SerfsX12
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 10
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	Jews	NA	2 unrelated families	NA	Tamary H et al., 2000Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R, . Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.. Br. J. Haematol.. 2000; 111(1):338-43

FANCA || c.295C>T

Gene/Locus:	FANCA
Dna Change:	c.295C>T
Protein Change:	p.Gln99X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 4
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	Gypsy	NA	8 unrelated patients	600 years ago	Callén E et al., 2005Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J, . A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.. Blood. 2005; 105(5):1946-9

FANCA || exon 15 deletion

Gene/Locus:	FANCA
Dna Change:	exon 15 deletion
Protein Change:
Mutation Type:	Deletion
Mutation Effect:
Location:	exon 15
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	54% (42 patients/78 patients from 62 families)	NA	Amouri A et al., 2014Amouri A, Talmoudi F, Messaoud O, d'Enghien CD, Rekaya MB, Allegui I, Azaiez H, Kefi R, Abdelhak A, Meseddi SH, Torjemane L, Ouederni M, Mellouli F, Abid HB, Aissaoui L, Bejaoui M, Othmen TB, Lyonnet DS, Soulier J, Hachicha M, Dellagi K, Abdelhak S, Fanconi T, . High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.. Mol Genet Genomic Med. 2014; 2(2):160-5

FANCA || c.2172_2173insG

Gene/Locus:	FANCA
Dna Change:	c.2172_2173insG
Protein Change:	p.Ser725ValfsX69
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	exon 24
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	NA	76.9% (risk allele frequency)	NA	Tamary H et al., 2000Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R, . Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.. Br. J. Haematol.. 2000; 111(1):338-43

FANCA || c.4275delT

Gene/Locus:	FANCA
Dna Change:	c.4275delT
Protein Change:	p.Asp1427ThrfsX6
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 43
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	NA	2 patients	NA	Tamary H et al., 2000Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R, . Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.. Br. J. Haematol.. 2000; 111(1):338-43

FANCA || c.790C>T

Gene/Locus:	FANCA
Dna Change:	c.790C>T
Protein Change:	p.Gln264X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 8
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Campania region	10 alleles	NA	De Rocco D et al., 2014De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A, , . Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.. Haematologica. 2014; 99(6):1022-31

FANCA || c.2840C>G

Gene/Locus:	FANCA
Dna Change:	c.2840C>G
Protein Change:	p.Ser947X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 29
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Campania region	8 alleles	NA	De Rocco D et al., 2014De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A, , . Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.. Haematologica. 2014; 99(6):1022-31

FANCA || c.2738A>C

Gene/Locus:	FANCA
Dna Change:	c.2738A>C
Protein Change:	p.His913Pro
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 28
Transcript:	NM_000135.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sicily	7 alleles	NA	De Rocco D et al., 2014De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A, , . Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.. Haematologica. 2014; 99(6):1022-31

References

Amouri A, Talmoudi F, Messaoud O, d'Enghien CD, Rekaya MB, Allegui I, Azaiez H, Kefi R, Abdelhak A, Meseddi SH, Torjemane L, Ouederni M, Mellouli F, Abid HB, Aissaoui L, Bejaoui M, Othmen TB, Lyonnet DS, Soulier J, Hachicha M, Dellagi K, Abdelhak S, Fanconi T, High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.Mol Genet Genomic Med. 2014; 2(2):160-5

Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J, A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.Blood. 2005; 105(5):1946-9

De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A, , Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Haematologica. 2014; 99(6):1022-31

Tamary H, Bar-Yam R, Shalmon L, Rachavi G, Krostichevsky M, Elhasid R, Barak Y, Kapelushnik J, Yaniv I, Auerbach AD, Zaizov R, Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.Br. J. Haematol.. 2000; 111(1):338-43

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Fanconi anemia, complementation group A

References