Phenotype: Ichthyosis, congenital, autosomal recessive 1


OMIM: 242300
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

TGM1 || c.1223_1227delACACA

Gene/Locus:    TGM1
Dna Change:    c.1223_1227delACACA
Protein Change:    p.Asp408Valfs*21
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 8
Transcript:    NM_000359.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNAGalicia4 families/10 families94 generationsFachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580

TGM1 || c.2278C>T

Gene/Locus:    TGM1
Dna Change:    c.2278C>T
Protein Change:    p.Arg760X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 15
Transcript:    NM_000359.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNAGalicia7 families/10 families96 generations agoFachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580

TGM1 || c.984+1G>A

Gene/Locus:    TGM1
Dna Change:    c.984+1G>A
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:   
Location:    intron 6
Transcript:    NM_000359.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNAGalicia2 families/10 familiesNAFachal L et al., 2012Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, . Multiple local and recent founder effects of TGM1 in Spanish families.. PLoS ONE. 2012; 7(4):e33580

TGM1 || c.788G>A

Gene/Locus:    TGM1
Dna Change:    c.788G>A
Protein Change:    p.Trp263X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 5
Transcript:    NM_000359.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA2 patients/2 unrelated familiesNALouhichi N et al., 2013Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F, . Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.. Mol. Biol. Rep.. 2013; 40(3):2527-32

References

Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A, Multiple local and recent founder effects of TGM1 in Spanish families.PLoS ONE. 2012; 7(4):e33580

Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F, Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Mol. Biol. Rep.. 2013; 40(3):2527-32