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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: Lipoprotein lipase deficiency

OMIM: 238600
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

LPL || c.644G>A

Gene/Locus:	LPL
Dna Change:	c.644G>A
Protein Change:	p.Gly215Glu (GLY188GLU)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 5
Transcript:	NM_000237.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	4 families/12 unrelated families	NA	Foubert L et al., 1997Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P, . Assessment of French patients with LPL deficiency for French Canadian mutations.. J. Med. Genet.. 1997; 34(8):672-5
Morocco	Berber	NA	2 families/2 unrelated families	NA	Foubert L et al., 1997Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M, . A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.. Hum. Mutat.. 1997; 10(3):179-85

LPL || c.829G>A

Gene/Locus:	LPL
Dna Change:	c.829G>A
Protein Change:	p.Asp277Asn (Asp250Asn)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_000237.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	1 families/12 unrelated families	NA	Foubert L et al., 1997Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P, . Assessment of French patients with LPL deficiency for French Canadian mutations.. J. Med. Genet.. 1997; 34(8):672-5

LPL || c.858T>A

Gene/Locus:	LPL
Dna Change:	c.858T>A
Protein Change:	p.Ser286Arg
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_000237.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	Southern	1 patient/1 family	NA	Bouabdellah M et al., 2015Bouabdellah M, Iraqi H, Benlian P, Berqia I, Benchekroun L, Chraïbi A, Chabraoui L, . Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family.. Ann. Biol. Clin. (Paris). 2015; 0(0):

References

Bouabdellah M, Iraqi H, Benlian P, Berqia I, Benchekroun L, Chraïbi A, Chabraoui L, Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family.Ann. Biol. Clin. (Paris). 2015; 0(0):

Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M, A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.Hum. Mutat.. 1997; 10(3):179-85

Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P, Assessment of French patients with LPL deficiency for French Canadian mutations.J. Med. Genet.. 1997; 34(8):672-5

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Lipoprotein lipase deficiency

References