{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:31:49Z","timestamp":1760783509658},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,2,24]],"date-time":"2012-02-24T00:00:00Z","timestamp":1330041600000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>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 (<jats:italic>NEB<\/jats:italic>) of an Ashkenazi Jewish parent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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 <jats:italic>NEB<\/jats:italic> was performed on the DNA from the patients and parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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 <jats:italic>NEB<\/jats:italic> exon 55 deletion was detected in the heterozygote state and in three of them, a second novel mutation was found.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Ultrasonographic findings suggestive of a myopathy and a carrier state for the <jats:italic>NEB<\/jats:italic> exon 55 deletion in one of the parents should trigger a thorough investigation for NM. The extreme size of <jats:italic>NEB<\/jats:italic> imposes great difficulties when searching for a second mutation, especially under the time constraints of an ongoing pregnancy. \u00a9 2012 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.2905","type":"journal-article","created":{"date-parts":[[2012,2,24]],"date-time":"2012-02-24T12:42:11Z","timestamp":1330087331000},"page":"70-74","source":"Crossref","is-referenced-by-count":13,"title":["Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy"],"prefix":"10.1002","volume":"32","author":[{"given":"Hagith","family":"Yonath","sequence":"first","affiliation":[{"name":"Danek Gertner Institute of Human Genetics Sheba Medical Center  Ramat Gan Israel"},{"name":"Sackler School of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haike","family":"Reznik\u2010Wolf","sequence":"additional","affiliation":[{"name":"Danek Gertner Institute of Human Genetics Sheba Medical Center  Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Berkenstadt","sequence":"additional","affiliation":[{"name":"Danek Gertner Institute of Human Genetics Sheba Medical Center  Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shlomit","family":"Eisenberg\u2010Barzilai","sequence":"additional","affiliation":[{"name":"Danek Gertner Institute of Human Genetics Sheba Medical Center  Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vilma\u2010Lotta","family":"Lehtokari","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Insitute of Genetics and Department of Medical Genetics, Haartman Institute University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carina","family":"Wallgren\u2010Pettersson","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Insitute of Genetics and Department of Medical Genetics, Haartman Institute University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lakshmi","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; 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