Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1

Neuromuscular Disorders : NMD
S Rudnik-SchönebornK Zerres

Abstract

Two Croatian siblings with atypical clinical findings in the presence of SMN1 gene mutations are reported. The girl presented with delayed motor development and weakness in hands and feet in her first year of life. She never stood or walked and developed scoliosis and joint contractures during childhood. Her hands and feet were non-functional when last seen at age 14 years. Her 4-year-old brother was more severely affected and had a clinical picture resembling infantile spinal muscular atrophy (SMA) type 1. He also showed unusual distally pronounced weakness and facial weakness. Both patients had no sensory deficits but gave evidence of a mixed axonal and demyelinating neuropathy with pronounced slowing in the distal nerve segments. Unexpectedly, both siblings showed a compound heterozygous SMN1 mutation (heterozygous deletion and missense mutation c.689C > T; p.S230L), thus confirming infantile SMA. In addition, next generation sequencing of 52 genes for hereditary neuropathies revealed a heterozygous missense mutation c.505T > C; p.Y169H in the SH3TC2 gene that was transmitted by the healthy father. Our observations widen the phenotypic consequences of SMN1 gene mutations and support the notion to look for additional genetic ...Continue Reading

References

Aug 13, 1998·Journal of Child Neurology·H OmranR Korinthenberg
Nov 7, 1998·Clinical Chemistry and Laboratory Medicine : CCLM·N BarisićA Stavljenić-Rukavina
Mar 12, 2010·The New England Journal of Medicine·James R LupskiRichard A Gibbs

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Citations

Feb 29, 2020·Genes·K M Tahsin Hassan Rahit, Maja Tarailo-Graovac

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