Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905.
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.
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.
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.
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.
当异常的产前超声发现与神经束蛋白基因（nebulin gene，NEB）常见外显子 55 缺失的携带者状态同时出现在一个阿什肯纳兹犹太裔父母的孩子中时，提高对杆状体肌病（nemaline myopathy，NM）可能性的认识。
我们描述了 4 例具有异常产前超声发现的无关妊娠，导致新生儿出现 NM，其中一个或两个父母均为阿什肯纳兹犹太裔。从患者的病历中回顾性收集数据。对患者和父母的 DNA 进行 NEB 分子分析。
产前超声发现包括羊水过多、胎儿运动减少、马蹄内翻足和关节挛缩。两名新生儿的活检与 NM 一致。在所有新生儿中，均在外显子 55 杂合状态检测到常见的 NEB 缺失，其中 3 例发现了第二个新突变。
超声检查发现有肌病表现且父母一方为 NEB 外显子 55 缺失的携带者时，应彻底调查 NM。NEB 巨大的大小使得在寻找第二个突变时面临巨大困难，尤其是在妊娠期间时间紧迫的情况下。
