A Case of ALMS1 Compound Heterozygous Variant Causing Alstrom Syndrome
CHEN Hui-fang
ZUO Wen-tao
ZHAO Ling-zhi
CHEN Jin-fan
HUI Ling
ZHANG Chuan
Abstract：Alstrom syndrome is an autosomal recessive disorder with multisystem involvement caused by the mutations in ALMS1 gene.The pathogenesis of the disease is not fully understood,the effective treatment is also lacking,and the prognosis is poor.The young age of onset,wide range of clinical symptoms and varying severity of the disease make it difficult to diagnose and treat.We report a female case of Alstrom syndrome diagnosed by whole exome sequencing(WES).The patient presented with congestive heart failure,congenital cardiomyopathy,atrial septal defect,growth retardation and recurrent pneumonia.She was given symptomatic treatments including infection control,cardiotonic,diuretic,and calcium supplementation,but the final prognosis was poor.The ALMS1 compound heterozygous variant c.11647_c.11648delAT(p.M3883fs*9)/c.2888_c.2897del GTGTTTTCTA(p.S963fs*15)was found to be a rare variant.The discovery of this compound heterozygous variant provided a new reference for the genetic study of Alstrom syndrome.
Keywords：Alstrom syndromeWhole exome sequencingHeart failurePneumoniaALMS1
Publication Date：2025-11-15
Online Publishing Date：2026-01-07(First online date of this platform, not the publication date of the document)
Pages：5( 459-463 )