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

Journal of Pediatric Endocrinology & Metabolism : JPEM
Caley LaxerKhalid Hussain

Abstract

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 (ALMS1) gene located at 2p13.1. In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS. 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. 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.

References

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Methods Mentioned

BETA
glycosylation
protein correlation profiling

Software Mentioned

Primer
Ensembl
DNA Sequence Analysis
Sequencher
Ensembl Genome Browser

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