Diagnosing Alstrom syndrome in a patient followed up with syndromic obesity for years

被引:1
|
作者
Yakubi, Mustafa [1 ]
Cicek, Dilek [2 ]
Demir, Mikail [1 ]
Yildirim, Abdulbaki [1 ]
Hatipoglu, Nihal [2 ]
Ozkul, Yusuf [1 ]
Dundar, Munis [1 ]
机构
[1] Erciyes Univ, Dept Med Genet, Fac Med, Kayseri, Turkey
[2] Erciyes Univ, Dept Pediat, Fac Med, Kayseri, Turkey
关键词
ALMS1; gene; biallelic mutations; obesity; rare diseases;
D O I
10.5582/irdr.2022.01024
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Alstrom syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alstrom syndrome 1 (ALMS1) gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, non-alcoholic fatty liver disease, and chronic progressive kidney disease. Generally, the first clinical symptoms of the disease appear in the first years of life with a major variation of onset age. In this study, we aimed to examine the molecular diagnosis of a 6-year-old patient with suspected AS clinical symptoms. After applying clinical exome sequencing (CES) in the patient we found a homozygous deletion in exon 8 at the ALMS1 gene (c.2311_2312del). We identified a homozygous frameshift mutation. The reported variant was pathogenic according to the criteria of the American College of Medical Genetics and Genomics (ACMG). Thus, the patient was diagnosed with AS as a result of the combined clinical phenotype and genetic tests results. We hope the variant we found can expand the spectrum of ALMS1 variants in AS.
引用
收藏
页码:84 / 86
页数:3
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