Background The THOC6 protein is a component of the THO complex. It is involved in mRNA
transcription, processing and nuclear export. Interestingly molecular biallelic loss‐of …

Cantù syndrome (CS) is a rare multisystemic disorder, characterized by congenital
hypertrichosis, macrocephaly, facial dysmorphisms, cardiomegaly, vascular, and skeletal …

THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability
Syndrome (TIDS). THOC6 is critical for mammalian Transcription Export complex (TREX) …

DDX39B is a member of the DEAD-box family of ATP-dependent RNA helicases. DEAD-box
proteins are ubiquitously expressed from yeast to humans and perform essential functions …

Abstract Beaulieu‐Boycott‐Innes syndrome (BBIS; MIM# 613680) is a rare, autosomal
recessive neurodevelopmental genetic disorder associated with pathogenic variants in the …

THOC6 is a newly described causal gene for an autosomal recessive intellectual disability
(ID)-Beaulieu Boycott Innes syndrome (BBIS)(OMIM# 613680). It is characterized by ID with …

Mesencephalosynapsis is characterized by a failure of the dorsal brainstem colliculi to
separate into distinct lateral masses (non-cleavage, aka “fusion”). It is linked to …

Interventions: Symptomatic treatment and rehabilitation training for patients. Outcomes: The
genetic cause of the disease was identified. The family received scientific genetic …

Beaulieu-Boycott-Innes syndrome (BBIS) is an autosomal recessive neurodevelopmental
disorder characterized by delayed development, moderate to severe intellectual disability …

THOC6 intellectual disability syndrome is associated with moderate-to-severe
developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall …