Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Salma A S AbosabieSara A AbosabieJaber AlfaifiYoussef A AlqahtaniAyed A ShatiNajmah A AlotaibiOhoud A AlghamdiGhadi N AlotaibiAbdulrahman A BaabdullahLama K KabrahNaglaa M KamalMohammed A M OshiEnas A A AbdallahPublished in: Molecular genetics & genomic medicine (2023)
In cases featuring cardiomyopathy, obesity, and progressive hearing and vision loss, Alström syndrome merits inclusion within the differential diagnosis. To confirm the diagnosis, molecular genetic assessment of the ALMS1 gene is imperative, offering definitive clarity amidst the complex clinical presentation. This investigation reinforces the importance of genetic scrutiny for precise diagnosis and highlights the unique genetic landscape of Alström syndrome within the Saudi Arabian population.