[Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the SMN1 gene. Because of the autosomal recessive type of transmission, the genetic risk of the disease in the following generations is small and is estimated to be about 1%. Here we present a case report of a father and son suffering from SMA. The father is affected with a mild form of SMA, with onset at about 13 years of age. The son suffers from SMA type 2, with onset at about 13 months of age. In both father and son, genetic analysis showed biallelic deletion of exons 7 and 8 in the SMN1 gene. The boy's mother is a carrier of the deletion at the SMA locus. Quantitative analysis revealed one copy of the SMN1 gene.
Jedrzejowska
Maria
M
Zespół Badawczo-Leczniczy Chorób Nerwowo-Mieśniowych, Instytut Medycyny Doświadczanej i Klinicznej PAN, ul. Pawińskiego 5, 02-106 Warszawa. mariaj@cmdik.pan.pl
Madej-Pilarczyk
Agnieszka
A
Zimowski
Janusz
J
Hausmanowa-Petrusewicz
Irena
I
D000328:Adult; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D005220:Fathers; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009679:Nuclear Family; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein