HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.

ABSTRACT:

Background

Recent research found that biallelic HPDL variants can cause neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), with only a few reports. Clinical phenotypic information on individuals with damaging HPDL variants may also be incomplete. The phenotype of NEDSWMA is characterized by severe neurodevelopmental delay, brain atrophy, and spasticity in infancy.

Methods

Exome sequencing was used in the proband and his parents to identify the underlying genetic cause. Candidate mutations were validated by classic Sanger sequencing. The clinical presentation of the infant who carried HPDL variants was summarized.

Results

We identified a novel compound heterozygous variants in HPDL, c.995delC (p.T332Mfs) and c.1051C&

SUBMITTER: Wang Y 

PROVIDER: S-EPMC9544218 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature