Document Detail

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
MedLine Citation:
PMID:  22367672     Owner:  NLM     Status:  In-Data-Review    
OBJECTIVE: To increase awareness to the possibility of nemaline myopathy (NM) when abnormal prenatal ultrasound findings appear together with a carrier state for the common exon 55 deletion in the nebulin gene (NEB) of an Ashkenazi Jewish parent.
METHODS: We describe four unrelated pregnancies with abnormal prenatal ultrasound findings resulting in the birth of newborns with NM, where one or both parents were of Ashkenazi Jewish origin. Data was collected retrospectively from the patients' medical files. Molecular analysis of NEB was performed on the DNA from the patients and parents.
RESULTS: Prenatal ultrasound findings included polyhydramnios, decreased fetal movements, club feet, and arthrogryposis. A biopsy from two of the newborns was consistent with NM. In all of the newborns, the common NEB exon 55 deletion was detected in the heterozygote state and in three of them, a second novel mutation was found.
CONCLUSIONS: Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for NM. The extreme size of NEB imposes great difficulties when searching for a second mutation, especially under the time constraints of an ongoing pregnancy. © 2012 John Wiley & Sons, Ltd.
Hagith Yonath; Haike Reznik-Wolf; Michal Berkenstadt; Shlomit Eisenberg-Barzilai; Vilma-Lotta Lehtokari; Carina Wallgren-Pettersson; Lakshmi Mehta; Reuven Achiron; Yinon Gilboa; Sylvie Polak-Charcon; Thomas Winder; Moshe Frydman; Elon Pras
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  32     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-02-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  70-4     Citation Subset:  IM    
Copyright Information:
© 2012 John Wiley & Sons, Ltd.
Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
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