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Abstract：
OBJECTIVE: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
METHODS: This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene.
CONCLUSIONS: This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.
METHODS: This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene.
CONCLUSIONS: This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.
摘要：
目的：报告ALMS1基因的两个新变异，并讨论两对Alström综合征兄弟姐妹的听力学演变和临床表型。
方法：本文是多学科诊断评估，进行遗传和听力学分析，旨在报告ALMS1基因的两个新变体，并讨论一系列家族性Alström综合征患者的听力学演变和临床表型。因此,我们描述了4例表现出两对无关的兄弟姐妹的完整听力测定曲线，以更好地了解这种非常罕见的疾病。此外,本研究确定了ALMS1基因中的两个杂合突变。
结论：本临床胶囊报告强调了在Alström综合征患者发展过程中进行听力学监测的重要性。发现的两种变体以前没有在文献中报道过，这扩展了Alström综合征中ALMS1变体的范围。
方法：本文是多学科诊断评估，进行遗传和听力学分析，旨在报告ALMS1基因的两个新变体，并讨论一系列家族性Alström综合征患者的听力学演变和临床表型。因此,我们描述了4例表现出两对无关的兄弟姐妹的完整听力测定曲线，以更好地了解这种非常罕见的疾病。此外,本研究确定了ALMS1基因中的两个杂合突变。
结论：本临床胶囊报告强调了在Alström综合征患者发展过程中进行听力学监测的重要性。发现的两种变体以前没有在文献中报道过，这扩展了Alström综合征中ALMS1变体的范围。
