Shukla-vernon syndrome: A second family with a novel variant in the BCORL1 gene

Babylakshmi Muthusamy, Anikha Bellad, Satish Chandra Girimaji, Akhilesh Pandey

Research output: Contribution to journalArticlepeer-review

Abstract

Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for this disorder. The BCORL1 gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. In this study, we report an Indian family with two male siblings with features of Shukla- Vernon syndrome. The patients exhibited global developmental delay, intellectual disability, kyphosis, seizures, and dysmorphic features including bushy prominent eyebrows with synophrys, sharp beaked prominent nose, protuberant lower jaw, squint, and hypoplastic ears with fused ear lobes. No behavioral abnormalities were observed. Whole exome sequencing revealed a novel potentially pathogenic arginine to cysteine substitution (p.Arg1265Cys) in the BCORL1 protein. This is the second report of Shukla-Vernon syndrome with a novel missense variant in the BCORL1 gene. Our study confirms and expands the phenotypes and genotypes described previously for this syndrome and should aid in diagnosis and genetic counselling of patients and their families.

Original languageEnglish (US)
Article number452
JournalGenes
Volume12
Issue number3
DOIs
StatePublished - Mar 2021

Keywords

  • BCL-6
  • BCOR
  • Co-repressor
  • Intellectual disability
  • Transcription repression
  • X-linked

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Shukla-vernon syndrome: A second family with a novel variant in the BCORL1 gene'. Together they form a unique fingerprint.

Cite this