KEGG DISEASE: Familial persistent stuttering

KEGG

DISEASE: Familial persistent stuttering

Entry

H02897                      Disease

Name

Familial persistent stuttering

Description

Stuttering (STUTS) is a common neurodevelopmental speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. Stuttering has been shown to be highly heritable. Mutations in AP4E1 have been reported in individuals with persistent stuttering. AP4E1 encodes a subunit of the AP-4 complex, involved in protein sorting at the trans-Golgi network.

Category

Mental and behavioural disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A01  Developmental speech or language disorders
    H02897  Familial persistent stuttering

Gene

AP4E1 [HSA:23431] [KO:K12400]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D

Title

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

Journal

Am J Hum Genet 97:715-25 (2015)
DOI:10.1016/j.ajhg.2015.10.007

Reference

Authors

Fedyna A, Drayna D, Kang C

Title

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.

Journal

J Hum Genet 56:80-2 (2011)
DOI:10.1038/jhg.2010.125

LinkDB

» Japanese version

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