LAMB2

LAMB2

A gene on chromosome 3p21 that encodes laminin beta 2, an extracellular matrix protein most commonly found in the basement membrane of muscles at neuromuscular junctions, renal glomeruli and vascular smooth muscle. LAMB2 is also the retired HUGO symbol for what is now designated LAMC1, see there.
References in periodicals archive ?
The mutations in podocyte genes result in either autosomal recessive FSGS (NPHS1, NPHS2, LAMB2, PLCE1, ARGHDIA, MYO1E and other genes) or autosomal dominant FSGS (ACTN4, CD2AP, INF2, TRPC6, WT1, ARHGAP24 and other genes) or mitochondrial disorders (CoQ6, tRNALeu, tRNATyr, tRNAIle).
Mutations in the NPHS1, NPHS2 and PLCE1 genes have been found in most of the severe cases of congenital and early onset NS, whereas, mutations in the LAMB2 and WT1 genes are found in syndromic NS.
NPHS2 (encoding podocin), WT1 (exons 8 and 9) and LAMB2 (encoding laminin-[beta]2) are causes of two thirds of cases of nephrotic syndrome with onset in the first year of life.
Amplification of NPHS1 (NCBI Reference Sequence NG_013356), NPHS2 (NCBI Reference Sequence NG_007535), WT1 (NCBI Reference Sequence NG_009272) and LAMB2 (NCBI Reference Sequence NG_008094) were performed by PCR.
The NPHS1, NPHS2, WT1 and LAMB2 genes were analyzed in genomic DNA samples of 33 Polish children with primary SRNS due to FSGS.
Neither NPHS1 nor LAMB2 mutations were found in our FSGS cohort.
The lack of LAMB2 mutations in our FSGS cohort, in patients from the UK Renal Registry [3] and in Saudi Arabian SRNS children [10] fully justifies removal of laminin-[beta]2 genetic analysis from the algorithm introduced by Santin et al.
In a large European cohort of 89 children with INS occurring during first year of life, two thirds of the cases were attributable to mutations of one of the four genes; NPHS1, NPHS2, WT1 and LAMB2.