Background: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 () gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and investigate the corresponding gene mutations.

Methods: Patients underwent detailed clinical and imaging examinations. Whole-exome sequencing was performed to detect nucleotide variations in the disease-causing genes of HGPPS.

Results: Six pathogenic variants were detected in the gene from six patients with HGPPS, including two novel compound heterozygous mutations, c.1447C > T (p.R483X) and c.2462G > C (p.R821P); c.1033G > C (p.V345L) and c.3287G > T (p.C1096F); a novel homozygous indel mutation, c.565dupC (p.R191Pfs*61); and a known missense mutation, c.416G > T (p.G139V). Patients with HGPPS had horizontal conjugated eye movement defects and scoliosis with variable degrees, as well as flattened pontine tegmentum and uncrossed corticospinal tracts on magnetic resonance imaging.

Conclusion: Our genetic findings will expand the spectrum of mutations and help inform future research on the molecular mechanism of HGPPS.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515397PMC
http://dx.doi.org/10.3389/fped.2022.949565DOI Listing

Publication Analysis

Top Keywords

patients hgpps
12
clinical features
8
horizontal gaze
8
gaze palsy
8
palsy progressive
8
progressive scoliosis
8
patients
5
hgpps
5
features genotypes
4
genotypes patients
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!