TASP1 TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies

摘要

We report a 20p12.1 homozygous deletion including exons 5‐10 of the TASP1 gene in an infant with developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal, cardiac, and renal systems. TASP1 encodes taspase 1 which is responsible for cleaving, thus activating, a number of transcription factors including the mixed lineage leukemia 1 (MLL1). Taspase 1‐deficient mice showed early lethality, skeletal abnormalities, and growth failure, which support a potentially causal role of TASP1 deletion in this infant. Furthermore, the infant reported here had many of the features seen in Wiedemann‐Steiner syndrome which is caused by MLL1 defects. Such observation further supports that TASP1 is a novel disease‐related gene that is associated with a disease phenotype overlapping with Wiedemann‐Steiner syndrome as both are caused by defects in the same pathway.