Alstrom syndrome (OMIM 203800)

A case report and literature review

Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A. Hegele, Paul N. Durrington

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

Background. Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described. Case presentation. We describe the case of a 27-year old female from an English (Caucasian) kindred. She had been initially referred for hypertriglyceridemia, but demonstrated other features suggestive of AS, including blindness, obesity, type 2 diabetes, renal dysfunction, and hypertension. DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene - H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. In addition to presenting these novel molecular findings for AS, we review the clinical and genetic features of AS in the context of our case. Conclusion. Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.

Original languageEnglish
Article number49
JournalOrphanet Journal of Rare Diseases
Volume2
Issue number1
DOIs
Publication statusPublished - 2007
Externally publishedYes

Fingerprint

Alstrom Syndrome
Genetic Databases
Mutation
Hypertriglyceridemia
Hyperinsulinism
Blindness
Type 2 Diabetes Mellitus
Genes
Obesity
Retinal Dystrophies
Renal Hypertension
Sensorineural Hearing Loss
Pediatric Obesity
Heterozygote

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Joy, T., Cao, H., Black, G., Malik, R., Charlton-Menys, V., Hegele, R. A., & Durrington, P. N. (2007). Alstrom syndrome (OMIM 203800): A case report and literature review. Orphanet Journal of Rare Diseases, 2(1), [49]. https://doi.org/10.1186/1750-1172-2-49

Alstrom syndrome (OMIM 203800) : A case report and literature review. / Joy, Tisha; Cao, Henian; Black, Graeme; Malik, Rayaz; Charlton-Menys, Valentine; Hegele, Robert A.; Durrington, Paul N.

In: Orphanet Journal of Rare Diseases, Vol. 2, No. 1, 49, 2007.

Research output: Contribution to journalArticle

Joy, T, Cao, H, Black, G, Malik, R, Charlton-Menys, V, Hegele, RA & Durrington, PN 2007, 'Alstrom syndrome (OMIM 203800): A case report and literature review', Orphanet Journal of Rare Diseases, vol. 2, no. 1, 49. https://doi.org/10.1186/1750-1172-2-49
Joy, Tisha ; Cao, Henian ; Black, Graeme ; Malik, Rayaz ; Charlton-Menys, Valentine ; Hegele, Robert A. ; Durrington, Paul N. / Alstrom syndrome (OMIM 203800) : A case report and literature review. In: Orphanet Journal of Rare Diseases. 2007 ; Vol. 2, No. 1.
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