PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

ABSTRACT:

Objective

A study was undertaken to characterize the clinical features of the newly described hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive disorder mapped to chromosome 1q42.12 due to mutations in the PYCR2 gene, encoding an enzyme involved in proline synthesis in mitochondria.

Methods

From several international clinics, 11 consanguineous families were identified with PYCR2 mutations by whole exome or targeted sequencing, with detailed clinical and radiological phenotyping. Selective mutations from patients were tested for effect on protein function.

Results

The characteristic clinical presentation of patients with PYCR2 mutations included failure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor dis

SUBMITTER: Zaki MS 

PROVIDER: S-EPMC4938747 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature