Abstract
Objective: 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 LAMB2 gene.Method: 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 LAMB2 gene by the sanger sequencing.Result:Sanger sequencing detected a homozygous 2-bp deletion (c.2044_2045insTT/p.Cys682Phefs*13) in the exon 16 of LAMB2 gene. Both parents are heterozygous carriers.Conclusion: We reported the first Uyghur case of LAMB2 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.
Highlights
Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular abnormalities
LAMB2 is the only gene currently known to be responsible for Pierson syndrome
Single gene sequencing revealed a homozygous loss of function variant, which is consistent with null homozygous or compound heterozygous mutations previously report in patients with Pierson syndrome
Summary
Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular abnormalities. The first 2 patients with congenital nephrotic syndrome and peculiar eye abnormalities were described by Pierson et al in 1963, Since 79 patients from about 60 families around the world have been diagnosed with Pierson Syndrome. Eighty seven percentage of patients exhibited symptom within the first 3 months of life [1]. The prognosis of Pierson Syndrome is usually poor, and patients progress to end-stage renal disease in a few weeks or months [2]. About 11 pathogenic variants had been reported in HGMD (accessed on Nov. 4th, 2017). Few Chinese patients had been evaluated and reported with this syndrome. The so far reported three cases of Chinese
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