LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Am J Med Genet A. 2024 Oct;194(10):e63723. doi: 10.1002/ajmg.a.63723. Epub 2024 May 27.

Abstract

Bardet-Biedl syndrome (BBS) is an inherited ciliopathy affecting multiple organs and systems with wide clinical and genetic heterogeneity. To date, biallelic variants of the LZTFL1 gene have been reported only in six patients with BBS. We identified a homozygous LZTFL1 nonsense variant in a boy presenting with classical BBS features. In addition, he showed a more pronounced cognitive impairment than previously reported subjects and severe short stature, matching the phenotype displayed by some other patients with LZTFL1 variants and lztfl1 knock-out mice. This case report contributes to a better understanding of the clinical spectrum associated with LZTFL1 pathogenic variants, and highlights possible genotype-phenotype correlations.

Keywords: Bardet–Biedl syndrome; LZTFL1; exome sequencing; short stature.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bardet-Biedl Syndrome* / complications
  • Bardet-Biedl Syndrome* / genetics
  • Bardet-Biedl Syndrome* / pathology
  • Child
  • Child, Preschool
  • Codon, Nonsense / genetics
  • Dwarfism / complications
  • Dwarfism / genetics
  • Dwarfism / pathology
  • Female
  • Genetic Association Studies*
  • Homozygote
  • Humans
  • Infant, Newborn
  • Intellectual Disability* / genetics
  • Intellectual Disability* / pathology
  • Male
  • Mutation / genetics
  • Phenotype*
  • Transcription Factors / genetics

Substances

  • Codon, Nonsense
  • Transcription Factors