Whole exome sequencing of ALMS1 gene identified a novel pathogenic homozygous mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a turkish family

Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) gene. Case Presentation: A 13.5-year-old male patient, who was born from consanguineous parents of Turkish descent, applied due to the complaint of obesity and non palpable testes. He had optic atrophy and hearing loss. His weight and body mass index were over 97th percentile. The fasting blood glucose level of the patient was 111 mg/dl and the patient had high level of insulin. Because AS was considered, genetic analysis of the ALMS1 gene was performed and a homozygous pathogenic (Class-II) mutation c.3132_3133delAC/ p.Gln1045ValfsTer2 was detected in the exon 8 region of the ALMS1 gene. His mother was heterozygous carrier of the same mutation. Conclusion: A novel c.3132_3133delAC mutation in ALMS1 gene cause clinical findings of AS such as obesity, reduced visual acuity, hearing loss and other systems manifestations