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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: Arthropathy, progressive pseudorheumatoid, of childhood

OMIM: 208230
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

WISP3 || c.156C>A

Gene/Locus:	WISP3
Dna Change:	c.156C>A
Protein Change:	p.Cys52X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 3
Transcript:	NM_003880.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	3 patients/1 family	NA	Temiz F et al., 2011Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK, . A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.. J. Pediatr. Endocrinol. Metab.. 2011; 24(1):105-8

References

Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK, A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.J. Pediatr. Endocrinol. Metab.. 2011; 24(1):105-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Arthropathy, progressive pseudorheumatoid, of childhood

References