Neissi Mostafa, Sheikh-Hosseini Motahareh, Mohammadi-Asl Misagh, Al-Badran Adnan Issa, Roghani Mojdeh, Mohammadi-Asl Javad, Jorfi Kamele
Department of Genetics, Khuzestan Science and Research Branch Islamic Azad University Ahvaz Iran.
Department of Genetics, Ahvaz Branch Islamic Azad University Ahvaz Iran.
Clin Case Rep. 2024 Oct 22;12(10):e9506. doi: 10.1002/ccr3.9506. eCollection 2024 Oct.
The discovery of compound heterozygous mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation for Leber congenital amaurosis 9 in an Iranian patient. The proband's symptoms-including severe visual impairment, nystagmus, night blindness, and retinal degeneration-align with Leber congenital amaurosis 9 clinical features. This case underscores the value of exome-sequencing in diagnosing rare genetic disorders and highlights its role in guiding personalized genetic counseling and potential treatments.
Leber congenital amaurosis is a severe early-onset inherited retinal dystrophy. This study delves into the genetic basis of Leber congenital amaurosis, pinpointing compound heterozygous mutations in the gene as significant causative factors. While one mutation validates previous findings (c.245T>C; p.Val82Ala), the second (c.575A>G; p.Asp192Gly) proves novel, expanding the genetic landscape of Leber congenital amaurosis 9. Both mutations, inherited independently from nonconsanguineous parents, contribute to the intricate genetic basis of light on Leber congenital amaurosis 9 in this case. The identified mutations shed light on Leber congenital amaurosis genetics in the Iranian population, showcasing the efficacy of exome-sequencing for molecular diagnoses in hereditary retinal degeneration. These findings provide valuable insights for tailored genetic counseling and potential therapeutic interventions.
发现复合杂合突变（c.245T>C；p.Val82Ala和c.575A>G；p.Asp192Gly）为一名伊朗患者的莱伯先天性黑蒙9型提供了遗传学解释。先证者的症状——包括严重视力损害、眼球震颤、夜盲和视网膜变性——与莱伯先天性黑蒙9型的临床特征相符。该病例强调了外显子组测序在诊断罕见遗传疾病中的价值，并突出了其在指导个性化遗传咨询和潜在治疗方面的作用。
莱伯先天性黑蒙是一种严重的早发性遗传性视网膜营养不良。本研究深入探讨了莱伯先天性黑蒙的遗传基础，确定该基因中的复合杂合突变是重要的致病因素。虽然一个突变证实了先前的发现（c.245T>C；p.Val82Ala），但第二个突变（c.575A>G；p.Asp192Gly）是新发现的，扩展了莱伯先天性黑蒙9型的遗传图谱。这两个突变均独立遗传自非近亲父母，共同构成了该病例中莱伯先天性黑蒙9型复杂的遗传基础。所确定的突变揭示了伊朗人群中莱伯先天性黑蒙的遗传学特征，展示了外显子组测序在遗传性视网膜变性分子诊断中的有效性。这些发现为定制遗传咨询和潜在的治疗干预提供了有价值的见解。
