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

ABSTRACT:

Background

Threonine Aspartase 1 (Taspase 1) is a highly conserved site-specific protease whose substrates are broad-acting nuclear transcription factors that govern diverse biological programs, such as organogenesis, oncogenesis, and tumor progression. To date, no single base pair mutations in Taspase 1 have been implicated in human disease.

Methods

A female infant with a new pattern of diagnostic abnormalities was identified, including severe craniofacial anomalies, anterior and posterior segment dysgenesis, immunodeficiency, and macrocytic anemia. Trio-based whole exome sequencing was performed to identify disease-causing variants.

Results

Whole exome sequencing revealed a normal female karyotype (46,XX) without increased regions of homozygosity. The proband was he

SUBMITTER: Balkin DM 

PROVIDER: S-EPMC6732342 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature