title: Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
abstract: 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.
authors.affiliation: Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
authors.forename: Hagith
authors.initials: H
authors.lastname: Yonath
authors.forename: Haike
authors.initials: H
authors.lastname: Reznik-Wolf
authors.forename: Michal
authors.initials: M
authors.lastname: Berkenstadt
authors.forename: Shlomit
authors.initials: S
authors.lastname: Eisenberg-Barzilai
authors.forename: Vilma-Lotta
authors.initials: VL
authors.lastname: Lehtokari
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Mehta
authors.forename: Reuven
authors.initials: R
authors.lastname: Achiron
authors.forename: Yinon
authors.initials: Y
authors.lastname: Gilboa
authors.forename: Sylvie
authors.initials: S
authors.lastname: Polak-Charcon
authors.forename: Thomas
authors.initials: T
authors.lastname: Winder
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.forename: Elon
authors.initials: E
authors.lastname: Pras
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007585:Jews / Q000235:genetics; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000000981:diagnostic imaging* / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D018389:Codon, Nonsense; D009124:Muscle Proteins; C035620:nebulin