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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: Epidermolysis bullosa dystrophica, autosomal recessive

OMIM: 226600
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

COL7A1 || c.2304_2305insTT2305_2315del

Gene/Locus:	COL7A1
Dna Change:	c.2304_2305insTT2305_2315del
Protein Change:	p.Val769LeufsX1
Mutation Type:	Indel
Mutation Effect:	Frameshift
Location:	exon 17
Transcript:	NM_000094.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	Southern	62 % of mutated allele	NA	Ben Brick AS et al., 2013Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H, . Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.. Arch. Dermatol. Res.. 2013; 0(0):

COL7A1 || c.6527dupC (c.6527insC)

Gene/Locus:	COL7A1
Dna Change:	c.6527dupC (c.6527insC)
Protein Change:	p.Gly2177TrpfsX113
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	exon 80
Transcript:	NM_000094.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	NA	1131 years ago	Sanchez-Jimeno C et al., 2013Sanchez-Jimeno C, Cuadrado-Corrales N, Aller E, García M, Escámez MJ, Illera N, Trujillo-Tiebas MJ, Ayuso C, Millán JM, Del Río M, . Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.. Br. J. Dermatol.. 2013; 168(1):226-9
Spain	NA	NA	27 patients/ 49 patients	NA	Cuadrado-Corrales N et al., 2010Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Escámez MJ, Illera N, Hernández-Martín A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M, . A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.. BMC Med. Genet.. 2010; 11(0):139

COL7A1 || c.497_498insA

Gene/Locus:	COL7A1
Dna Change:	c.497_498insA
Protein Change:	p.Val168GlyfsX12
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	exon 4
Transcript:	NM_000094.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	15.3% of mutated alleles	NA	Gardella R et al., 2002Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, . Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.. J. Invest. Dermatol.. 2002; 119(6):1456-62

COL7A1 || c.4783-1G>A

Gene/Locus:	COL7A1
Dna Change:	c.4783-1G>A
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 49
Transcript:	NM_000094.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sicily	6.1% of mutated alleles	NA	Gardella R et al., 2002Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, . Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.. J. Invest. Dermatol.. 2002; 119(6):1456-62

COL7A1 || c.1664G>A

Gene/Locus:	COL7A1
Dna Change:	c.1664G>A
Protein Change:	p.Gly555Glu
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:	NM_000094.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Apulia	5.1% of mutated alleles	NA	Gardella R et al., 2002Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, . Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.. J. Invest. Dermatol.. 2002; 119(6):1456-62

References

Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H, Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.Arch. Dermatol. Res.. 2013; 0(0):

Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Escámez MJ, Illera N, Hernández-Martín A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M, A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.BMC Med. Genet.. 2010; 11(0):139

Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M, Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.J. Invest. Dermatol.. 2002; 119(6):1456-62

Sanchez-Jimeno C, Cuadrado-Corrales N, Aller E, García M, Escámez MJ, Illera N, Trujillo-Tiebas MJ, Ayuso C, Millán JM, Del Río M, Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.Br. J. Dermatol.. 2013; 168(1):226-9

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Epidermolysis bullosa dystrophica, autosomal recessive

References