Kenny-Caffey syndrome

Definition:

Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections are common in patients with KCS. KCS is mostly inherited as an autosomal dominant trait. Recently, mutations in the FAM111A gene has been identified. Autosomal recessive cases have mutations in TBCE gene that encodes chaperone proteins of tubulins.

References:

[1]. G A Diaz, et al. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. Genomics. 1998 Nov 15;54(1):13-8. [Content Brief]

[2]. Ruti Parvari, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet. 2002 Nov;32(3):448-52. [Content Brief]

[3]. Sheila Unger, et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet. 2013 Jun 6;92(6):990-5. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

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 #

Name
Email *

	Sorry, but the email address you supplied was invalid.