Zusammenfassung:
<jats:title>Abstract</jats:title><jats:p>Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (</jats:p><jats:p>In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.</jats:p><jats:p>Both brothers were found to be homozygous for a novel nonsense c.7310C>A (p.S2437X) mutation in exon-8 of</jats:p><jats:p>This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in</jats:p>
Beschreibung:
<jats:title>Abstract</jats:title><jats:p>Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (</jats:p><jats:p>In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.</jats:p><jats:p>Both brothers were found to be homozygous for a novel nonsense c.7310C>A (p.S2437X) mutation in exon-8 of</jats:p><jats:p>This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in</jats:p>