Endocrine metabolism characteristics of Alstrom syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.

ABSTRACT:

Background

Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics.

Method

Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole exome sequencing was used for molecular diagnosis, and miniGene experiments were performed for the ALMS1 c.9539G > A mutation.

Result

Twenty-five patients, 14 males and 11 females, with an average age of diagnosis of 7.3 years, were included. Obesity, insulin resistance, diabetes, thyroid nodules and subclinical hypothyroidism, hyperlipidemia, fatty liver, mild scoliosis and sex hormone abnormalities were common endocrine and metabolic abnormalities, whereas hypokalaemia and pancreatitis occurred only in a single case

SUBMITTER: Peng H 

PROVIDER: S-EPMC12495653 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature