Department of Anatomy, Jinnah Sindh Medical University, Karachi, Pakistan.
Department of Anatomy, Jinnah Medical and Dental College, Karachi, Pakistan.
J Pak Med Assoc. 2022 May;72(5):874-877. doi: 10.47391/JPMA.04-611.
To investigate the mutation in Vangl1 gene in patients of myelomeningocele.
The cross-sectional study was conducted from July 2017 to December 2017 in the Dow Diagnostic and Research Laboratory, Karachi, after approval from the ethics review committee of Dow University of Health Sciences, Karachi, and comprised clinically diagnosed infants and 10 healthy individuals from the outpatient department of Jinnah Postgraduate Medical Centre, Karachi. Several anatomical parameters were considered, such as size and site of the cyst. Blood samples were drawn and polymerase chain reaction was conducted for the identification of mutation in Vangl1 gene. Mutation analysis was carried out by aligning the sequence with the reference sequence.
Of the 60 subjects, 50(83.3%) were cases with age range 0-10 years, and 10(16.6%) were age matched controls. Majority of the patients 44 (88%) were aged <1 year. Novel mutation in Vangl1 gene was identified at position 239, showing the substitution of valine with glycineV239G. Lumbar region was the most common site for the presentation of myelomeningocele in most of the patients 46(92%).
The rare mutation of myelomeningocele was found present in the sample, and the disease was found mostly in the lumbar region.
研究脊髓脊膜膨出患者 Vangl1 基因突变情况。
本横断面研究于 2017 年 7 月至 12 月在卡拉奇的道诊断与研究实验室进行，经卡拉奇道健康科学大学伦理审查委员会批准，纳入卡拉奇吉纳纳高等医学中心门诊部的 60 例临床诊断的婴儿和 10 名健康个体。考虑了多个解剖学参数，如囊肿的大小和位置。采集血样，进行聚合酶链反应以鉴定 Vangl1 基因突变。通过与参考序列进行序列比对进行突变分析。
在 60 名受试者中，50 名（83.3%）为年龄 0-10 岁的病例，10 名（16.6%）为年龄匹配的对照。大多数患者（88%，44 名）年龄<1 岁。在 Vangl1 基因中发现了一个新的突变，位于 239 位，导致缬氨酸被甘氨酸取代（V239G）。在大多数患者（46 名，92%）中，腰骶部是脊髓脊膜膨出最常见的发病部位。
在样本中发现了罕见的脊髓脊膜膨出突变，且该疾病主要发生在腰骶部。
