A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

Matejas, Verena; Al‐Gazali, Lihadh; Amirlak, Iradj; Zenker, Martin

doi:10.1093/ndt/gfl463

Cited by 60 publications

(37 citation statements)

References 9 publications

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“…Patients with solely minor glomerular changes or focal segmental sclerosis seem to tend to have a less severe renal phenotype [8,9]. So far, only one Pierson patient with FSGS and end-stage renal failure delayed until the age of 16 has been reported [10]. Our patient showed only mild DMS and residual glomerular laminin ß2 expression.…”

Section: Discussionmentioning

confidence: 59%

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Lehnhardt

Lama

Amann³

et al. 2012

Pediatr Nephrol

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Section: Discussionmentioning

confidence: 59%

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Lehnhardt

Lama

Amann³

et al. 2012

Pediatr Nephrol

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“…(iii) The patient may have somatic mosaicism for this mutation that occurred de novo on the paternally inherited allele. It is notable that recently non-truncating (missense) LAMB2 mutations were detected in patients with congenital nephrotic syndrome and mild, non-specific eye abnormalities and even in one family with isolated congenital nephrosis [Hasselbacher et al, 2006;Matejas et al, 2006].…”

Section: Discussionmentioning

confidence: 99%

Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome

Wühl

Kogan

Zurowska

et al. 2007

American J of Med Genetics Pt A

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Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct eye abnormalities with microcoria reported as the most prominent clinical feature. LAMB2 mutations leading to lack of laminin beta2 were identified as the molecular cause underlying Pierson syndrome. Although LAMB2 is known to be expressed in the neuromuscular system, and defects of the neuromuscular junctions had been found in laminin beta2-deficient mice, no consistent neurological phenotype has been described clinically in murine or human laminin beta2-deficiency before. This is likely due to the early lethality from renal failure. Here we provide a detailed description of neurological manifestations and development in four patients affected by Pierson syndrome, who survived until the age of 1.3-4.8 years owing to renal replacement therapy. Severe muscular hypotonia, psychomotor retardation, and blindness were present in three patients harboring truncating mutations on both LAMB2 alleles. These symptoms were not attributable to complications of chronic renal failure, thus representing a primary feature of the genetic disorder. Alterations in skeletal muscle tissue from one case were compatible with a chronic denervating process. One affected girl, however, exhibited a milder course of renal disease, normal development, and preserved vision, presumably owing to some residual LAMB2 function. Our findings indicate that severe neurodevelopmental deficits have to be considered as part of Pierson syndrome, at least in the presence of biallelic functional null mutations (complete lack of laminin beta2). This is an important issue in the counseling of parents of an affected newborn or infant.

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“…In addition, childhood onset glomerular kidney disease and ocular abnormality was found in a family of Pakistani origin with seven affected children. A compound heterozygosity for two novel mutations (p.Q1728X, p.V79del) in the LAMB2 gene was identified [Matejas et al, 2006]. Furthermore, proximal renal tubular acidosis associated with ocular abnormalities was diagnosed in a family of Jordanian Bedouin origin.…”

Section: Genetic Disorders Of the Kidneysmentioning

confidence: 98%

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

Abstract: This observation demonstrates that the phenotypic spectrum of LAMB2-associated disorders is broader than previously anticipated, and suggests that milder, non-lethal phenotypes may be associated with mutations retaining some residual function.

Cited by 60 publications

References 9 publications

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

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