Clinical and genetic findings in Alstrom syndrome: One case with obesity and acanthosis
10.3760/cma.j.cn311282-20220407-00215
- VernacularTitle:以肥胖和黑棘皮为表现的一例Alstrom综合征临床与遗传学特征分析
- Author:
Yujun WANG
1
;
Jinjing WAN
;
Ping JIN
Author Information
1. 中南大学湘雅三医院内分泌科，长沙 410007
- Keywords:
Alstrom syndrome;
ALMS1 gene;
Obesity;
Acanthosis
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(9):809-812
- CountryChina
- Language:Chinese
-
Abstract:
Alstrom syndrome is a rare autosomal recessive multi-organ syndrome caused by variations in ALMS1 gene. We explore the underlying genetic cause in one case of Alstrom syndrome who manifasted childhood obesity, hyperinsulinemia, and acanthosis using the whole-exome sequencing, to improve clinicians′ awareness of the disease. The proband presented with obesity, acanthosis, hyperinsulinemia, and fatty liver in childhood, but without typical manifestations of Alstrom syndrome, such as retinal degeneration, hearing impairment and cardiomyopathty. Whole-exome sequencing revealed that the proband carried a complex heterozygous ALMS1 mutation, including c. 1A>T(p.M1? ) and c. 8971G>C, p. D2991H. Family verification found that his father wass heterozygous for the c. 1A>T mutation, his mother was heterozygous for the c. 8971G>C mutation, and the sister′s ALMS1 gene detection and clinical phenotype were normal, which was consistent with the autosomal recessive inheritance pattern. Through bioinformatics analysis, the new mutations c. 1A>T and c. 8971G>C in the ALMS1 gene were identified as deleterious mutations. In this study, a single case of Alstrom syndrome was reported with childhood obesity, acanthosis nigricans, and hyperinsulinemia as the main manifestations, and two new ALMSl gene mutations were discovered, which expanded the phenotype and pathogenic mutation spectrum of Alstrom syndrome.
