Pierson Syndrome

Alternative Names

  • Microcoria-Congenital Nephrotic Syndrome

Associated Genes

Laminin, Beta-2
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WHO-ICD-10 version:2010

Diseases of the genitourinary system

Glomerular diseases

OMIM Number

609049

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3p21.31

Description

Pierson syndrome is an autosomal recessive disorder, which combines congenital nephrotic syndrome presenting as diffuse mesangial sclerosis, with a complex ocular maldevelopment, the most striking feature of which is extreme and fixed narrowing of the pupils (microcoria). Patients with Pierson syndrome may also suffer severe neurodevelopmental deficits including congenital muscular weakness/myasthenia and developmental retardation.

The association of early-onset nephrotic syndrome and microcoria should direct diagnosis towards Pierson syndrome. Similarly, detecting hyperechogenic kidneys and oligohydramnio prenatally points out to this syndrome. Molecular antenatal diagnosis can be offered to families when their causative mutation is known. Most patients die due the disease progressing to renal failure within the first days or months of life. Patients who survive infancy due to renal replacement therapy are blind and may develop severe neurological deficits.

Molecular Genetics

The molecular etiology of Pierson syndrome relates to mutations affecting the LAMB2 gene leading to lack of laminin beta2. Laminins are present in virtually all basement membranes and play important roles for attachment, differentiation and maintenance of functional integrity of adjacent cells. LAMB2 is expressed in the glomerular basement membrane, ocular structures, and the neuromuscular junctions. The latter expression pattern corresponds well with the clinical findings of Pierson syndrome. The majority of LAMB2 mutations are predicted to lead to a premature translational stop codon.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609049.1Saudi ArabiaNoYes Microphthalmia; Microcornea; Nephrotic s...NM_002292.4:c.4276dupHomozygousAutosomal, RecessiveAnazi et al. 2017b; Patel et al. 2018 Parents are distantl...
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