Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

ABSTRACT:

Background

3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin complement pathway enzymes MASP-1 and MASP-3, have thus far been reported to cause 3MC1 syndrome. Only one previously reported mutation affects both MASP-1 and MASP-3, while the other mutations affect only MASP-3.

Methods

We evaluated six unrelated individuals with 3MC1 syndrome and performed Sanger sequencing for all coding exons of MASP1. We also measured complement lectin and alternative pathway activities in an affected individual's serum.

Results

We found two novel splice site mutations, c.1012-2A > G in one and c.891 + 1G > T in two probands, an

SUBMITTER: Atik T 

PROVIDER: S-EPMC4589207 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature