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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

BMC medical genetics - 1 Sept 2020

Gatticchi Leonardo, Miertus Jan, Maltese Paolo Enrico, Bressan Simone, De Antoni Luca, Podracká Ludmila, Piteková Lucia, Rísová Vanda, Mällo Mari, Jaakson Kaie, Joost Kairit, Colombo Leonardo, Bertelli Matteo

Abstract excerpt

BACKGROUND: Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin resistance, hyperinsulinemia, type 2 diabetes mellitus and systemic fibrosis. Heterogeneity and age-dependent development of clinical manifestations make it...

Topics

Alstrom Syndrome
Cell Cycle Proteins
Codon, Nonsense
Early Diagnosis
Female
Frameshift Mutation
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Infant

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Identifiers

PMID: 32867697
DOI: 10.1186/s12881-020-01110-1
PMCID: PMC7460749

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