A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndrome.

Abstract excerpt

Beaulieu-Boycott-Innes syndrome (BBIS; MIM#613680) is a rare, autosomal recessive neurodevelopmental genetic disorder associated with pathogenic variants in the THOC6 gene (*615403). Intellectual disability, dysmorphic facial features, developmental delay, structural cardiac and genitourinary anomalies, and dental caries are suggestive findings of the syndrome. Exome sequencing (ES) may facilitate the diagnosis...

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