PDF(Pubmed)
Abstract：
UNASSIGNED: Congenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye\'s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoaponeurotic-fibrosarcoma oncogene homolog (MAF) gene can result in Ayme-Gripp syndrome and solitary cataract. Notably, MAF mutations have been infrequently reported in recent years.
UNASSIGNED: In this investigation, we recruited a Chinese family with non-syndromic cataracts. Whole exome sequencing and Sanger sequencing were applied to scrutinize the genetic anomaly within the family.
UNASSIGNED: Through whole exome sequencing and subsequent data filtration, a new mutation (NM_005360, c.901T>C/p.Y301H) in the MAF gene was detected. Sanger sequencing validated the presence of this mutation in another affected individual. The p.Y301H mutation, situated in an evolutionarily preserved locus, was not detected in our 200 local control cohorts and various public databases. Additionally, multiple bioinformatic programs predicted that the mutation was deleterious and disrupted the bindings between MAF and its targets.
UNASSIGNED: Hence, we have documented a new MAF mutation within a Chinese family exhibiting isolated congenital cataracts. Our study has the potential to broaden the spectrum of MAF mutations, offering insights into the mechanisms underlying cataract formation and facilitating genetic counseling and early diagnosis for congenital cataract patients.
UNASSIGNED: In this investigation, we recruited a Chinese family with non-syndromic cataracts. Whole exome sequencing and Sanger sequencing were applied to scrutinize the genetic anomaly within the family.
UNASSIGNED: Through whole exome sequencing and subsequent data filtration, a new mutation (NM_005360, c.901T>C/p.Y301H) in the MAF gene was detected. Sanger sequencing validated the presence of this mutation in another affected individual. The p.Y301H mutation, situated in an evolutionarily preserved locus, was not detected in our 200 local control cohorts and various public databases. Additionally, multiple bioinformatic programs predicted that the mutation was deleterious and disrupted the bindings between MAF and its targets.
UNASSIGNED: Hence, we have documented a new MAF mutation within a Chinese family exhibiting isolated congenital cataracts. Our study has the potential to broaden the spectrum of MAF mutations, offering insights into the mechanisms underlying cataract formation and facilitating genetic counseling and early diagnosis for congenital cataract patients.
摘要：
■先天性白内障是全球儿童失明的主要原因，以出生时或出生后不久眼晶状体混浊为特征。先前的研究表明，V-MAF禽类肌膜膜-纤维肉瘤癌基因同源物（MAF）基因的变体可导致Ayme-Gripp综合征和孤立性白内障。值得注意的是,近年来，MAF突变很少报道。
■在这次调查中，我们招募了一个患有非综合征性白内障的中国家庭。应用全外显子组测序和Sanger测序来仔细检查家族内的遗传异常。
■通过整个外显子组测序和随后的数据过滤，新突变（NM_005360，c.901T>C/p。Y301H)在MAF基因中检测到。Sanger测序验证了该突变在另一个受影响的个体中的存在。p.Y301H突变,位于进化保存的基因座中，在我们的200个本地对照队列和各种公共数据库中未检测到。此外,多个生物信息学程序预测该突变是有害的，并且破坏了MAF与其靶标之间的结合。
■因此，我们已经在一个中国家庭中记录了一个新的MAF突变，该家庭表现出孤立的先天性白内障。我们的研究有可能拓宽MAF突变谱，深入了解白内障形成的潜在机制，促进先天性白内障患者的遗传咨询和早期诊断。
■在这次调查中，我们招募了一个患有非综合征性白内障的中国家庭。应用全外显子组测序和Sanger测序来仔细检查家族内的遗传异常。
■通过整个外显子组测序和随后的数据过滤，新突变（NM_005360，c.901T>C/p。Y301H)在MAF基因中检测到。Sanger测序验证了该突变在另一个受影响的个体中的存在。p.Y301H突变,位于进化保存的基因座中，在我们的200个本地对照队列和各种公共数据库中未检测到。此外,多个生物信息学程序预测该突变是有害的，并且破坏了MAF与其靶标之间的结合。
■因此，我们已经在一个中国家庭中记录了一个新的MAF突变，该家庭表现出孤立的先天性白内障。我们的研究有可能拓宽MAF突变谱，深入了解白内障形成的潜在机制，促进先天性白内障患者的遗传咨询和早期诊断。
