Alström syndrome caused by deletion in ALMS1 gene fixed in a Northern Pakistan recurrent haplotype

  • Carolina Monzó
  • Fátima Gimeno- Ferrer
  • Juan Carlos Ferrer García
  • Alicia Amadoz
  • David Albuquerque
  • Francisco Barros Angueira
  • Goitzane Marcaida
  • Raquel Rodríguez- López


Reduced genetic variability in isolated populations promotes the prevalence of long contiguous stretches of homozygosity (LCSH) that may carry deleterious mutations, manifesting recessive syndromes such as Alström syndrome (OMIM # 203800), caused principally by mutations in exons 8, 10, and 16 and deletions/insertions along the ALMS1 gene. Here, Sanger sequencing of these exons and whole-genome copy-number variants/single-nucleotide polymorphisms (SNPs) microarray were used to characterize ALMS1 gene in a 19-year-old Pakistani female with Alström syndrome. Sequencing did not reveal pathogenic alterations but described a set of homozygous polymorphisms. The microarray revealed these SNPs were included in an 8.24 Mb LCSH in 2p12.2p13 that contained a homozygous deletion including exons 13-16 of ALMS1 gene. Therefore, reduced genetic variability in Pakistani population enhanced the inheritance of the homozygous deletion causing Alström syndrome. The comparison of the deletion with known deletions spanning exons 13-16, described on Middle Eastern patients, suggested a fixation of the deletion in a specific haplotype.

Keywords: ALMS1, Alström syndrome, Gross deletion, Haplotype, Long contiguous stretches of homozygosity, Reduced genetic variability
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How to Cite
Monzó, C., Ferrer, F., García, J. C., Amadoz, A., Albuquerque, D., Angueira, F., Marcaida, G., & López, R. (2017). Alström syndrome caused by deletion in ALMS1 gene fixed in a Northern Pakistan recurrent haplotype. Indian Journal of Case Reports, 3(4), 171-174. Retrieved from
Case Report