[P1-187] ALMS1 mutations in Alström syndrome
[Objective] Alström syndrome is a rare autosomal recessive disease, the patients with Alström syndrome may have multisystem involvement, with cone-rod retinal dystrophy, nystagmus, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss, which affect 1:10,00,000 children. The purpose of this study is to investigate the clinical and genetics feature of Alström syndrome(AS) in Chinese population.
[Methods] Next generation sequencing technology has been used to identify an affected girl with Alström syndrome.
[Results]Two novel mutation p.N2054Nfs*19 at exon 8 and p.Q3608Qfs*7 t at exon16, in the ALMS1 gene were identified in a Chinese girl with Alström syndrome. Examination of her family revealed that her phenotypically unaffected mother and father also have heterozygous mutations in the ALMS1 gene. She had been initially referred for treatment because of retardation and epilepsy, but demonstrated other features suggestive of AS, including nystagmus. Other clinical features in this case, include sensorineural hearing loss, truncal obesity. A review of ALMS1 gene mutations status in Chinese population has been done, which showed that most of mutations locate at exon 8, exon10 and exon 16.
[Conclusions] Next generation sequencing technology and target capture offers new efficient and cost effective means for identifying ALMS1 mutations in patients with Alström syndrome, who may not show typical clinical features of the disease. This novel technology is useful tool not only to diagnosis Alström syndrome but also help to exclude other diseases.
[Methods] Next generation sequencing technology has been used to identify an affected girl with Alström syndrome.
[Results]Two novel mutation p.N2054Nfs*19 at exon 8 and p.Q3608Qfs*7 t at exon16, in the ALMS1 gene were identified in a Chinese girl with Alström syndrome. Examination of her family revealed that her phenotypically unaffected mother and father also have heterozygous mutations in the ALMS1 gene. She had been initially referred for treatment because of retardation and epilepsy, but demonstrated other features suggestive of AS, including nystagmus. Other clinical features in this case, include sensorineural hearing loss, truncal obesity. A review of ALMS1 gene mutations status in Chinese population has been done, which showed that most of mutations locate at exon 8, exon10 and exon 16.
[Conclusions] Next generation sequencing technology and target capture offers new efficient and cost effective means for identifying ALMS1 mutations in patients with Alström syndrome, who may not show typical clinical features of the disease. This novel technology is useful tool not only to diagnosis Alström syndrome but also help to exclude other diseases.