Zhu Hong Tao, Maimaiti Mireguli, Cao Chen, Luo Yan Fei, Julaiti Delihuma, Liang Lin, Abudureheman Aizezi
Pediatric, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Front Med (Lausanne). 2019 Feb 4;6:12. doi: 10.3389/fmed.2019.00012. eCollection 2019.
Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular abnormalities. Severe renal symptoms had be associated with truncating mutations. Few Chinese patients from diverse ethnic background had been evaluated and reported with this syndrome. Here we report the first Uyghur patient with typical Pierson syndrome phenotypes and a novel pathogenic homozygous variant in gene. A thirty-nine-day old Uyghur girl was born to consanguineous parents, the girl presented with general edema, severe hypotonia and bilateral microcoria. Laboratory tests revealed severe proteinuria, microscopic haematuria, hypoalbuminaemia. By the age of 74 days, she died of renal failure and respiratory infection. We detected on mutations of gene by the sanger sequencing. Sanger sequencing detected a homozygous 2-bp deletion (c.2044_2045insTT/p.Cys682Phefs13) in the exon 16 of gene. Both parents are heterozygous carriers. We reported the first Uyghur case of gene homozygous mutation leading to severe phenotype Pierson syndrome. The clinical presentation of the patient and the novel pathogenic variant detected in this patient added to the overall knowledge of this rare condition.
皮尔逊综合征（OMIM 609049）是一种罕见的常染色体隐性疾病，其特征为先天性肾病综合征和复杂的眼部异常。严重的肾脏症状与截短突变有关。来自不同种族背景的中国患者很少被评估和报道患有这种综合征。在此，我们报告首例具有典型皮尔逊综合征表型且基因存在新型致病纯合变异的维吾尔族患者。一名39天大的维吾尔族女孩，其父母为近亲结婚，该女孩出现全身水肿、严重肌张力减退和双侧小瞳孔。实验室检查显示严重蛋白尿、镜下血尿、低白蛋白血症。74天时，她死于肾衰竭和呼吸道感染。我们通过桑格测序检测该基因的突变。桑格测序在该基因第16外显子中检测到一个纯合的2碱基缺失（c.2044_2045insTT/p.Cys682Phefs13）。父母双方均为杂合携带者。我们报告了首例因基因纯合突变导致严重表型皮尔逊综合征的维吾尔族病例。该患者的临床表现以及在此患者中检测到的新型致病变异增加了对这种罕见疾病的整体认识。
