Beaulieu-Boycott-Innes syndrome
Definition:
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.
References:
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[1]. Chandree L Beaulieu, et al. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis. 2013 Apr 26;8:62. [Content Brief]
[2]. J S Amos, et al. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Clin Genet. 2017 Jan;91(1):92-99. [Content Brief]
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