A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

Authors

Merve Soğukpınar, Yavuz Ataş, Gülcan Üner, Perver Arslan, Hazal Ceren Tuğrul, Havva Akmaz Ünlü, Başak Uzunyayla Sayıcı

Published in

Molecular syndromology. May 21, 2026. Epub May 21, 2026.

Abstract

Jaberi-Elahi syndrome is a rare autosomal recessive neurodevelopmental disorder caused by biallelic loss-of-function variants in GTPBP2, a gene involved in ribosome-associated quality control. The condition shows marked phenotypic heterogeneity, including microcephaly, hypotonia or spasticity, developmental delay, intellectual disability, movement disorders, epilepsy, and variable neuroimaging findings.
We report a 4-month-old female infant born to consanguineous parents, presenting with severe microcephaly, developmental delay, hypotonia, and craniofacial features. Additional findings included left-sided pes equinovarus, secundum atrial septal defect, and periventricular white matter abnormalities on brain magnetic resonance imaging (MRI). No overt ectodermal abnormalities were observed. Ophthalmological examination revealed no structural anomalies; however, detailed retinal evaluation and electroretinography could not be performed. During follow-up, the patient developed early-onset seizures requiring antiepileptic treatment. Exome sequencing identified a novel homozygous frameshift variant in GTPBP2 (c.1165_1166del; p.(Leu389GlufsTer26)), classified as likely pathogenic. This homozygous variant was absent in population databases, and segregation analysis confirmed parental heterozygosity. This represents the first reported case with Jaberi-Elahi syndrome from Turkey.
Jaberi-Elahi syndrome should be considered in infants with severe congenital microcephaly, developmental delay, seizures, and craniofacial features, particularly in the context of consanguinity and abnormal brain MRI. This report expands the molecular and clinical spectrum of Jaberi-Elahi syndrome.

PMID:
42553919
Bibliographic data and abstract were imported from PubMed on 05 Aug 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.