One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth. (June 2014)

• Record Type: Journal Article
• Authors: Litvinenko, Ivan; Kirov, Andrey Ventsislavov; Georgieva, Ralitsa; Todorov, Tihomir; Malinova, Zornitsa; Mitev, Vanyo; Todorova, Albena
• Is Part Of: Journal of child neurology. Volume 29:Number 6(2014:Jun.)
• Page Start: 799
• Page End: 802
• Publication Date: 2014-06
• Subjects: IGHMBP2 -- SMARD -- mutation -- spinal muscular atrophy; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073813477203
• Languages: English
• ISSNs: 0883-0738

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.