KEGG DISEASE: Beaulieu-Boycott-Innes syndrome

KEGG

DISEASE: Beaulieu-Boycott-Innes syndrome

Entry

H02253                      Disease

Name

Beaulieu-Boycott-Innes syndrome

Description

Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate to severe intellectual disability, mild microcephaly, and non-life threatening congenital malformations including cardiac septal defects, structural renal anomalies, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis. THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02253  Beaulieu-Boycott-Innes syndrome

Pathway

Nucleocytoplasmic transport

Gene

THOC6 [HSA:79228] [KO:K13175]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Riviere JB, Faivre L, Innes AM, Lebel RR, Boycott KM

Title

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

Journal

Clin Genet 91:92-99 (2017)
DOI:10.1111/cge.12793

Reference

Authors

Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM

Title

Intellectual disability associated with a homozygous missense mutation in THOC6.

Journal

Orphanet J Rare Dis 8:62 (2013)
DOI:10.1186/1750-1172-8-62

LinkDB

» Japanese version

DBGET integrated database retrieval system