Pitt-Hopkins syndrome

Definition:

Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular breathing pattern is characteristic of PTHS. The defective gene is TCF4 in PTHS, and in patients who show severe mental retardation and other features resembling PTHS have mutations in CNTNAP2 and Neurexin I.

References:

[1]. Christiane Zweier, et al. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet. 2009 Nov;85(5):655-66. [Content Brief]

[2]. Grazia Taddeucci, et al. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. Ital J Pediatr. 2010 Feb 2;36:12. [Content Brief]

[3]. Mateja Smogavec, et al. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. J Med Genet. 2016 Dec;53(12):820-827. [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.