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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: Charcot-Marie-Tooth disease, type 4A

OMIM: 214400
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

GDAP1 || c.92G>A

Gene/Locus:	GDAP1
Dna Change:	c.92G>A
Protein Change:	p.Trp31X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 1
Transcript:	NM_018972.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	2 families / 4 families	NA	Baxter RV et al., 2002Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM, . Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.. Nat. Genet.. 2002; 30(1):21-2

GDAP1 || c.487C>T

Gene/Locus:	GDAP1
Dna Change:	c.487C>T
Protein Change:	p.Gln163Ter
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 4
Transcript:	NM_018972.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	NA	NA	Claramunt R et al., 2005Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F, . Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.. J. Med. Genet.. 2005; 42(4):358-65
Spain	NA	NA	NA	NA	Claramunt R et al., 2005Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F, . Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.. J. Med. Genet.. 2005; 42(4):358-65

GDAP1 || c.347T>G

Gene/Locus:	GDAP1
Dna Change:	c.347T>G
Protein Change:	p.Met116Arg
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 3
Transcript:	NM_018972.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Albania	NA	NA	4 patients/76 patients	NA	Di Maria E et al., 2004Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E, . A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.. J. Neurol. Neurosurg. Psychiatr.. 2004; 75(10):1495-8

GDAP1 || c.233C>T

Gene/Locus:	GDAP1
Dna Change:	c.233C>T
Protein Change:	p.Pro78Leu
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_018972.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	NA	6 patients/3 unrelated families	NA	Bouhouche A et al., 2007Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M, . A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.. Can J Neurol Sci. 2007; 34(4):421-6

GDAP1 || c.581C>G

Gene/Locus:	GDAP1
Dna Change:	c.581C>G
Protein Change:	p.Ser194X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 5
Transcript:	NM_018972.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	NA	6 families/13 families	NA	Bouhouche A et al., 2007Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E, . Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.. Brain. 2007; 130(0):1062-75

References

Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM, Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.Nat. Genet.. 2002; 30(1):21-2

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E, Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.Brain. 2007; 130(0):1062-75

Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M, A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.Can J Neurol Sci. 2007; 34(4):421-6

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F, Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.J. Med. Genet.. 2005; 42(4):358-65

Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E, A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.J. Neurol. Neurosurg. Psychiatr.. 2004; 75(10):1495-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Charcot-Marie-Tooth disease, type 4A

References