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Alstrom syndrome with a novel mutation of ALMS1 and Graves' hyperthyroidism: A case report and review of the literature.

ABSTRACT:

Background

Alström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the association between AS and Graves' hyperthyroidism.

Case summary

An 8-year-old Chinese girl was diagnosed with AS. Two years later, Graves' hyperthyroidism developed with progressive liver dysfunction. The patient's clinical data were collected; DNA from peripheral blood of the proband, parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes. The association between the patient's genotype and clinical phenotype was analyzed. She carried the pathogenic compound heterozygous mutation of ALMS1 (c.2296_2299del4 and c.11460C>A). These stop-gain mutations likely caused truncation of the ALMS1 protein.

Conclusion

The manifestation of hyperthyroidism may suggest rapid progression of AS.

SUBMITTER: Zhang JJ

PROVIDER: S-EPMC8080750 | biostudies-literature |

REPOSITORIES: biostudies-literature

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