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Stuttering, familial persistent 1(STUT1)

MedGen UID:
20932
Concept ID:
C0038131
Mental or Behavioral Dysfunction
Synonyms: STAMMERING; STUT1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): AP4E1 (15q21.2)
OMIM®: 184450

Definition

Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010). Stuttering typically arises in young children, where it affects at least 15% of those in age range 4 to 6 years (Bloodstein, 1995). Stuttering usually resolves spontaneously before adolescence, leading to a population prevalence of 1 to 2% among adults. Stuttering beyond childhood is characterized by a significant bias towards males, with males outnumbering females by a ratio of 3:1 to 5:1 (Yairi et al., 1996). Genetic Heterogeneity of Familial Persistent Stuttering Also see STUT2 (609261), mapped to chromosome 12q24; STUT3 (614655), mapped to chromosome 3q; and STUT4 (614668) mapped to chromosome 16q. [from OMIM]

Clinical features

Abnormality of the voice
MedGen UID:
867406
Concept ID:
C4021776
Anatomical Abnormality
Any abnormality of the voice.

Recent clinical studies

Etiology

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
Am J Hum Genet 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007. PMID: 26544806Free PMC Article
Panico J, Healey EC, Knopik J
J Fluency Disord 2015 Sep;45:1-11. Epub 2015 Jun 28 doi: 10.1016/j.jfludis.2015.06.001. [Epub ahead of print] PMID: 26144598
Ambrose NG, Yairi E, Loucks TM, Seery CH, Throneburg R
J Fluency Disord 2015 Sep;45:12-26. Epub 2015 Jun 1 doi: 10.1016/j.jfludis.2015.05.004. [Epub ahead of print] PMID: 26117417Free PMC Article
Lankman RS, Yaruss JS, Franken MC
J Fluency Disord 2015 Sep;45:27-37. Epub 2015 May 31 doi: 10.1016/j.jfludis.2015.05.003. [Epub ahead of print] PMID: 26078208
Weidner ME, St Louis KO, Burgess ME, LeMasters SN
J Fluency Disord 2015 Jun;44:74-87. Epub 2015 Apr 4 doi: 10.1016/j.jfludis.2015.03.003. [Epub ahead of print] PMID: 25906689

Diagnosis

Panico J, Healey EC, Knopik J
J Fluency Disord 2015 Sep;45:1-11. Epub 2015 Jun 28 doi: 10.1016/j.jfludis.2015.06.001. [Epub ahead of print] PMID: 26144598
Lankman RS, Yaruss JS, Franken MC
J Fluency Disord 2015 Sep;45:27-37. Epub 2015 May 31 doi: 10.1016/j.jfludis.2015.05.003. [Epub ahead of print] PMID: 26078208
Garcia-Barrera MA, Davidow JH
J Fluency Disord 2015 Jun;44:1-15. Epub 2015 Mar 26 doi: 10.1016/j.jfludis.2015.03.002. [Epub ahead of print] PMID: 25841698
Abou Ella M, Saleh M, Habil I, El Sawy M, El Assal L
Int J Speech Lang Pathol 2015;17(4):367-72. Epub 2015 Mar 5 doi: 10.3109/17549507.2015.1010583. [Epub ahead of print] PMID: 25739414
Watts A, Eadie P, Block S, Mensah F, Reilly S
Int J Speech Lang Pathol 2015 Feb;17(1):86-95. Epub 2014 Jul 11 doi: 10.3109/17549507.2014.923512. [Epub ahead of print] PMID: 25014490

Therapy

Rabaeys H, Bijleveld HA, Devroey D
Ann Pharmacother 2015 Oct;49(10):1096-104. Epub 2015 Jul 30 doi: 10.1177/1060028015596415. [Epub ahead of print] PMID: 26228939
Donaghy M, Harrison E, O'Brian S, Menzies R, Onslow M, Packman A, Jones M
Int J Speech Lang Pathol 2015;17(5):511-7. Epub 2015 Mar 12 doi: 10.3109/17549507.2015.1016110. [Epub ahead of print] PMID: 25763524
Abou Ella M, Saleh M, Habil I, El Sawy M, El Assal L
Int J Speech Lang Pathol 2015;17(4):367-72. Epub 2015 Mar 5 doi: 10.3109/17549507.2015.1010583. [Epub ahead of print] PMID: 25739414
Ingham RJ, Ingham JC, Bothe AK, Wang Y, Kilgo M
Am J Speech Lang Pathol 2015 May;24(2):256-71. doi: 10.1044/2015_AJSLP-14-0076. PMID: 25633470Free PMC Article
Hudock D, Kalinowski J
Int J Lang Commun Disord 2014 Jan-Feb;49(1):139-47. Epub 2013 Aug 30 doi: 10.1111/1460-6984.12053. [Epub ahead of print] PMID: 24372890

Prognosis

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
Am J Hum Genet 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007. PMID: 26544806Free PMC Article
Garcia-Barrera MA, Davidow JH
J Fluency Disord 2015 Jun;44:1-15. Epub 2015 Mar 26 doi: 10.1016/j.jfludis.2015.03.002. [Epub ahead of print] PMID: 25841698
Spencer C, Weber-Fox C
J Fluency Disord 2014 Sep;41:32-46. Epub 2014 Jun 16 doi: 10.1016/j.jfludis.2014.06.001. [Epub ahead of print] PMID: 25173455Free PMC Article
Lee K
Int J Lang Commun Disord 2014 Nov;49(6):771-9. Epub 2014 Jul 17 doi: 10.1111/1460-6984.12093. [Epub ahead of print] PMID: 25039429
St Louis KO, Williams MJ, Ware MB, Guendouzi J, Reichel IK
J Commun Disord 2014 Jul-Aug;50:36-50. Epub 2014 May 5 doi: 10.1016/j.jcomdis.2014.04.001. [Epub ahead of print] PMID: 24929998

Clinical prediction guides

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
Am J Hum Genet 2015 Nov 5;97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007. PMID: 26544806Free PMC Article
Vanhoutte S, Santens P, Cosyns M, van Mierlo P, Batens K, Corthals P, De Letter M, Van Borsel J
Neuropsychologia 2015 Aug;75:1-10. Epub 2015 May 21 doi: 10.1016/j.neuropsychologia.2015.05.013. [Epub ahead of print] PMID: 26004061
Garcia-Barrera MA, Davidow JH
J Fluency Disord 2015 Jun;44:1-15. Epub 2015 Mar 26 doi: 10.1016/j.jfludis.2015.03.002. [Epub ahead of print] PMID: 25841698
Lowe R, Menzies R, Packman A, O'Brian S, Onslow M
Int J Speech Lang Pathol 2015;17(5):481-8. Epub 2015 Mar 5 doi: 10.3109/17549507.2015.1010580. [Epub ahead of print] PMID: 25740627
Montag C, Bleek B, Breuer S, Prüss H, Richardt K, Cook S, Yaruss JS, Reuter M
Early Hum Dev 2015 Jan;91(1):43-6. Epub 2014 Nov 29 doi: 10.1016/j.earlhumdev.2014.11.003. [Epub ahead of print] PMID: 25460256

Recent systematic reviews

Baxter S, Johnson M, Blank L, Cantrell A, Brumfitt S, Enderby P, Goyder E
Health Technol Assess 2016 Jan;20(2):1-302, v-vi. doi: 10.3310/hta20020. PMID: 26767317Free PMC Article
Baxter S, Johnson M, Blank L, Cantrell A, Brumfitt S, Enderby P, Goyder E
Int J Lang Commun Disord 2015 Sep-Oct;50(5):676-718. Epub 2015 Jun 30 doi: 10.1111/1460-6984.12171. [Epub ahead of print] PMID: 26123259
Belyk M, Kraft SJ, Brown S
Eur J Neurosci 2015 Jan;41(2):275-84. Epub 2014 Oct 28 doi: 10.1111/ejn.12765. [Epub ahead of print] PMID: 25350867
Budde KS, Barron DS, Fox PT
Brain Lang 2014 Dec;139:99-107. Epub 2014 Nov 12 doi: 10.1016/j.bandl.2014.10.002. [Epub ahead of print] PMID: 25463820Free PMC Article
Craig A, Tran Y
J Fluency Disord 2014 Jun;40:35-43. Epub 2014 Jan 15 doi: 10.1016/j.jfludis.2014.01.001. [Epub ahead of print] PMID: 24929465

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