A novel ALMS1 homozygous mutation in two Turkish brothers with Alstrom syndrome

作者：Laxer Caley; Rahman Sofia A; Sherif Maha; Tahir Sophia; Cayir Atilla; Demirbilek Huseyin; Hussain Khalid^*

来源：Journal of Pediatric Endocrinology & Metabolism, 2016, 29(5): 585-589.

DOI：10.1515/jpem-2015-0249

• Alstrom syndrome
• diabetes mellitus
• genetic diagnosis
• monogenic obesity

Background: Alstrom 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 Alstrom syndrome 1 (ALMS1) gene located at 2p13.1.
Methods: In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.
Results: Both brothers were found to be homozygous for a novel nonsense c.7310C>A (p.S2437X) mutation in exon-8 of ALMS1 gene. The consanguineous parents were sequenced and both were heterozygous for the same mutation.
Conclusions: This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in ALMS1 gene responsible for the complex phenotype of AS in these patients.

• 出版日期2016-5