Five novel ALMS1 gene mutations in six patients with Alström syndrome

J Pediatr Endocrinol Metab. 2018 Jun 27;31(6):681-687. doi: 10.1515/jpem-2017-0418.

Abstract

Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene.

Methods: We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition.

Results: Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously.

Conclusions: Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.

Keywords: ALMS1 gene; Alström syndrome; cirrhosis; cone-rod dystrophy; gallstones; obesity; type 2 diabetes mellitus.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alstrom Syndrome / diagnosis
  • Alstrom Syndrome / genetics*
  • Alstrom Syndrome / pathology
  • Cell Cycle Proteins
  • Child
  • DNA Mutational Analysis
  • Early Diagnosis
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Proteins / genetics*
  • Retrospective Studies
  • Siblings
  • Young Adult

Substances

  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Proteins