Abstract：
UNASSIGNED: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family diagnosed with Pendred syndrome, all carrying the same SLC26A4 gene mutation.
UNASSIGNED: A chart review and a review of the literature.
UNASSIGNED: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature.
UNASSIGNED: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.
UNASSIGNED: A chart review and a review of the literature.
UNASSIGNED: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature.
UNASSIGNED: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.
摘要：
■Pendred综合征，常染色体隐性疾病,通常与编码pendrin蛋白的SLC26A4基因的致病变体有关。鉴于其常染色体隐性遗传，一旦确诊Pendred综合征,追踪家族史和筛查兄弟姐妹就变得至关重要.该病例报告旨在强调诊断为Pendred综合征的家庭内耳形态的变异性。均携带相同的SLC26A4基因突变。
■图表回顾和文献回顾。
■我们提出了一个4人的家庭，所有这些人都由于相同的纯合SLC26A4变体c.919-2A>G而患有感觉神经性听力损失。有趣的是，临床表现，尤其是内耳畸形,显示家庭成员之间的变异性。值得注意的是,1个家族成员表现出正常的耳蜗前庭结构形态，这在文献中很少报道。
■本报告强调了先证者表现出典型的Pendred综合征症状时，基因检测和家族咨询的重要性。它还强调了内耳形态可以在家庭成员之间表现出变异性，即使具有相同的纯合SLC26A4变体。
■图表回顾和文献回顾。
■我们提出了一个4人的家庭，所有这些人都由于相同的纯合SLC26A4变体c.919-2A>G而患有感觉神经性听力损失。有趣的是，临床表现，尤其是内耳畸形,显示家庭成员之间的变异性。值得注意的是,1个家族成员表现出正常的耳蜗前庭结构形态，这在文献中很少报道。
■本报告强调了先证者表现出典型的Pendred综合征症状时，基因检测和家族咨询的重要性。它还强调了内耳形态可以在家庭成员之间表现出变异性，即使具有相同的纯合SLC26A4变体。
