Sandeep Kumar Baranwal¹, Pawan Saraswat¹, Ankur Singh¹, Animesh Kumar² and Rajniti Prasad¹*

¹Division of Pediatric Neurology, Institute of Medical Sciences, B.H.U., Varanasi
²Department of Pediatrics, GEMRS and Medical college, Himmatnagar, Gujrat

*Corresponding Author: Rajniti Prasad, Division of Pediatric Neurology, Institute of Medical Sciences, B.H.U., Varanasi.

Received: August 26, 2024;; Published: October 30, 2024

Abstract

Background: Goldberg-Shprintzen syndrome is a rare genetic Autosomal Recessive disorder, characterized by impaired intellectual development, dysmorphic facial features, and neurological anomalies. The KIFBP gene has been identified as the responsible gene for the syndrome.  The KIFBP gene encodes a KIF-binding protein (KBP) which is expressed in the central and enteric nervous systems. KBP dysfunction affects neuronal migration, axonal extension, and neuronal apoptosis; therefore, it is thought to cause brain anomalies in patients with Goldberg-Shprintzen syndrome (GOSHS).

Clinical Description: We report a 6-year-old male patient with intellectual disability, dysmorphic facial features (triangular long slender face, long philtrum, thin upper lip, low set ears) with neurological anomalies (diffuse area of bilaterally asymmetrical periventricular white matter volume loss).

Management and Outcome: Whole exome analysis was performed to clarify the pathogenic variant of the above phenotype and found previously unreported homozygous variant p. Glu98Ter in exon 1 of KIFBP gene (chr10: g.68989124G>T; Depth180X) that results in stop codon and premature truncation of the protein at codon 98(p. Glu98er) was detected.

Conclusion: According to our findings, we suggest that this mutation expands mutational databases and contributes to the understanding of the phenotypic features of the syndrome.

 Keywords: Goldberg-Shprintzen Syndrome; KIFBP Gene; Neurological Anomalies

References

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Citation

Citation: Rajniti Prasad., et al. “Goldberg- Shprintzen Syndrome: The Novel Variant in the KIFBP Gene”. Acta Scientific Neurology 7.11 (2024): 57-59.

Copyright

Copyright: © 2024 Rajniti Prasad., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.