Abstract
Background:
Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene.
Methods:
We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition.
Results:
Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously.
Conclusions:
Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.
Author contributions: Concept: Suna Kılınç, Ayla Güven. Design: Suna Kılınç, Aya Güven, Rıza Köksal Özgül. Data collection and processing: Suna Kılınç, Ayla Güven, Aylin Ardagil, Süheyla Apaydın. Analyses and interpretations: Didem Yücel-Yılmaz, Rıza Köksal Özgül, Diana Valverde. Literature search: Suna Kılınç, Ayla Güven. Writing: Suna Kılınç, Ayla Güven, Rıza Köksal Özgül. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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