title: One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
abstract: A family with 2 siblings with severe spinal muscular atrophy with respiratory distress 1 (SMARD1) was genetically proved to be caused by mutations in IGHMBP2 gene. Both patients developed progressive muscular weakness and respiratory distress and died before 6 months of age. One novel deletion, c.780delG;p.(Gln260Hisfs*24), inherited from the father and a nonsense mutation, c.1488C>A;p.(Cys496*), inherited from the mother were detected. An attempt was made to correlate the genetic-clinical data available in the literature. The clinical case presented in this study might be considered as the most severe form of spinal muscular atrophy respiratory distress 1 reported so far, presumably because of the total absence of IGHMBP2 enzyme activity.
authors: University Pediatric Hospital, Sofia Medical University, Sofia, Bulgaria Both authors contributed equally to this work.
authors: Ivan
authors: I
authors: Litvinenko
authors: Department of Medical Chemistry and Biochemistry, Sofia Medical University Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria Both authors contributed equally to this work. andrey_kirov@mail.bg.
authors: Andrey Ventsislavov
authors: AV
authors: Kirov
authors: University Pediatric Hospital, Sofia Medical University, Sofia, Bulgaria.
authors: Ralitsa
authors: R
authors: Georgieva
authors: Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
authors: Tihomir
authors: T
authors: Todorov
authors: University Pediatric Hospital, Sofia Medical University, Sofia, Bulgaria.
authors: Zornitsa
authors: Z
authors: Malinova
authors: Department of Medical Chemistry and Biochemistry, Sofia Medical University.
authors: Vanyo
authors: V
authors: Mitev
authors: Department of Medical Chemistry and Biochemistry, Sofia Medical University Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
authors: Albena
authors: A
authors: Todorova
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D006801:Humans; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009460:Neurologic Examination; D013902:Radiography, Thoracic; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D013909:Thorax / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors
keywords: IGHMBP2; SMARD; mutation; spinal muscular atrophy