Abstract：
UNASSIGNED: This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot-Marie-Tooth disease type 5.
UNASSIGNED: A 38-year-old female with bilaterally subnormal vision and non-congenital hearing loss was initially diagnosed with Usher syndrome, based on finding variants in three genes (MYO7A, USH2A, and PCDH15), was re-evaluated at the inherited retinal disorders clinic. She had asymmetric retinopathy and right macular pseudocoloboma. She was also found to have myopathic facies, poor grip strength and atrophy of the calf muscles. Whole exome sequencing including variants in PRPS1 showed a variant (NM_002764.4:c.287 G > A; p.Arg96Gln), which was not detected by targeted Sanger sequencing of the DNA from her mother and sister.
UNASSIGNED: The constellation of asymmetric retinopathy and non-congenital hearing impairment should prompt the clinician to search for other diagnoses that may not be covered by an Usher syndrome next generation sequencing panel. Interpretation of genetic testing results should be correlated with a detailed clinical phenotype.
UNASSIGNED: A 38-year-old female with bilaterally subnormal vision and non-congenital hearing loss was initially diagnosed with Usher syndrome, based on finding variants in three genes (MYO7A, USH2A, and PCDH15), was re-evaluated at the inherited retinal disorders clinic. She had asymmetric retinopathy and right macular pseudocoloboma. She was also found to have myopathic facies, poor grip strength and atrophy of the calf muscles. Whole exome sequencing including variants in PRPS1 showed a variant (NM_002764.4:c.287 G > A; p.Arg96Gln), which was not detected by targeted Sanger sequencing of the DNA from her mother and sister.
UNASSIGNED: The constellation of asymmetric retinopathy and non-congenital hearing impairment should prompt the clinician to search for other diagnoses that may not be covered by an Usher syndrome next generation sequencing panel. Interpretation of genetic testing results should be correlated with a detailed clinical phenotype.
摘要：
■这项研究描述了如何将Usher综合征的诊断修改为PRPS1相关的视网膜病变和5型Charcot-Marie-Tooth疾病。
一名38岁女性，双侧视力低于正常，非先天性听力丧失，最初被诊断为Usher综合征，基于在三个基因中发现变异(MYO7A，USH2A,和PCDH15），在遗传性视网膜疾病诊所重新评估。她患有不对称视网膜病变和右侧黄斑假性腺瘤。她还被发现有肌病相，握力差，小腿肌肉萎缩。包括PRPS1中变体的全外显子组测序显示了一个变体（NM_002764.4：c.287G>A；p.Arg96Gln），通过对她母亲和妹妹的DNA进行有针对性的Sanger测序没有检测到。
■不对称视网膜病变和非先天性听力障碍的星座应促使临床医生寻找可能未被Usher综合征下一代测序小组涵盖的其他诊断。基因检测结果的解释应与详细的临床表型相关。
一名38岁女性，双侧视力低于正常，非先天性听力丧失，最初被诊断为Usher综合征，基于在三个基因中发现变异(MYO7A，USH2A,和PCDH15），在遗传性视网膜疾病诊所重新评估。她患有不对称视网膜病变和右侧黄斑假性腺瘤。她还被发现有肌病相，握力差，小腿肌肉萎缩。包括PRPS1中变体的全外显子组测序显示了一个变体（NM_002764.4：c.287G>A；p.Arg96Gln），通过对她母亲和妹妹的DNA进行有针对性的Sanger测序没有检测到。
■不对称视网膜病变和非先天性听力障碍的星座应促使临床医生寻找可能未被Usher综合征下一代测序小组涵盖的其他诊断。基因检测结果的解释应与详细的临床表型相关。
