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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: Papillon-Lefevre syndrome

OMIM: 245000
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

CTSC || c.815G>C

Gene/Locus:	CTSC
Dna Change:	c.815G>C
Protein Change:	p.Arg272Pro
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_001814.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Lebanon	NA	NA	1 family	NA	Kurban M et al., 2009Kurban M, Wajid M, Shimomura Y, Bahhady R, Kibbi AG, Christiano AM, . Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.. Dermatology (Basel). 2009; 219(4):289-94

References

Kurban M, Wajid M, Shimomura Y, Bahhady R, Kibbi AG, Christiano AM, Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.Dermatology (Basel). 2009; 219(4):289-94

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Papillon-Lefevre syndrome

References