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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: Megalencephalic leukoencephalopathy with subcortical cysts

OMIM: 604004
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

MLC1 || c.176G>A

Gene/Locus:	MLC1
Dna Change:	c.176G>A
Protein Change:	p.Gly59Glu
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_015166.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Libya	Jews	NA	carrier rate of 1 in 40	NA	Ben-Zeev B et al., 2002Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E, . Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.. Hum. Genet.. 2002; 111(2):214-8

MLC1 || c.353C>G

Gene/Locus:	MLC1
Dna Change:	c.353C>G
Protein Change:	p.Thr118Arg
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 5
Transcript:	NM_015166.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	3 patients/ 13 patients	NA	Yüzbaşioğlu A et al., 2011Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M, . Novel mutations of the MLC1 gene in Turkish patients.. Eur J Med Genet. 2011; 54(3):281-3

MLC1 || c.235G>A

Gene/Locus:	MLC1
Dna Change:	c.235G>A
Protein Change:	p.Glu79Lys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 3
Transcript:	NM_015166.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	2 patients/ 13 patients	NA	Yüzbaşioğlu A et al., 2011Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M, . Novel mutations of the MLC1 gene in Turkish patients.. Eur J Med Genet. 2011; 54(3):281-3

References

Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E, Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.Hum. Genet.. 2002; 111(2):214-8

Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M, Novel mutations of the MLC1 gene in Turkish patients.Eur J Med Genet. 2011; 54(3):281-3

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Megalencephalic leukoencephalopathy with subcortical cysts

References