TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia

ConclusionOne human patient has been reported previously with a largeTASP1 deletion and substantial evidence exists regarding the role of several known Taspase 1 substrates in human craniofacial and hematopoietic disorders. Moreover, Taspase 1 deficiency in mice results in craniofacial, ophthalmological and structural brain defects. Taken together, there exists substantial evidence to conclude that theTASP1 variant, p.(Val343Met), is pathogenic in this patient.

Source: Molecular Genetics & Genomic Medicine - July 26, 2019 Category: Genetics & Stem Cells Authors: Daniel M. Balkin, Menitha Poranki, Craig M. Forester, Morna J. Dorsey, Anne Slavotinek, Jason H. Pomerantz Tags: ORIGINAL ARTICLE Source Type: research