Amish, Mennonite, and Hutterite
Genetic Disorder Database

Beaulieu-Boycott-Innes syndrome

Disorder
OMIM #: #613680  (Click to access OMIM database)
Disorder: Beaulieu-Boycott-Innes syndrome 
Also known as: BBIS
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS 
Clinical
Phenotype: Developmental delay Facial dysmorphism Genitouringary anomalies Cardiac malformations High forehead Long nose VSD Cognitive defects 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: THOC6
Base Change: G>A, at nucleotide 136
Amino Acid Change: gly 46 --> arg
Last updated: 2017-11-08 

References
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium, Majewski J, Bulman DE, Parboosingh JS, Boycott KM. (2013) Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis Apr 26;8:62.
PubMed ID: 23621916 
Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM. (2010) A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. Am J Med Genet A Jun;152A(6):1349-56.
PubMed ID: 20503307 

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