Sun Manna, Lou Jiwu, Li Qiaoyi, Chen Jianhong, Li Yujuan, Li Dongzhi, Yuan Haiming, Liu Yanhui
Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, Guangdong, People's Republic of China.
Prenatal Diagnostic Center, Huizhou Women & Children Hospital, Huizhou, Guangdong, People's Republic of China.
Taiwan J Obstet Gynecol. 2019 Mar;58(2):292-295. doi: 10.1016/j.tjog.2019.01.022.
To present the prenatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.
A 32-year-old woman (gravida 1, para 0) underwent amniocentesis at 26 weeks' gestation because of constant small fetal kidneys on prenatal ultrasound. Chromosome microarray analysis (CMA) detected a de novo deletion of 1.871 Mb at 1q23.3. The deletion encompassed 2 genes of PBX1 and LMX1A. PBX1 haploinsufficiency had been reported to lead syndromic congenital anomalies of kidney and urinary tract (CAKUT) in humans. Furthermore, at 31 weeks' gestation, borderline oligohydramnios and restricted fetal dimensions were revealed. Ultimately, the pregnancy was terminated at 32 weeks with a 1500-g female fetus presenting polydactyl of left hand.
The shared phenotypes between this case and the previously published prenatal cases demonstrate that loss of function mutation in PBX1 should be suspicious in fetus with bilateral renal hypoplasia, oligohydramnios and intrauterine growth retardation (IUGR).
呈现1q23.3区域包含PBX1基因的新发间质性缺失的产前检查结果及分子细胞遗传学分析。
一名32岁女性（孕1产0），因产前超声检查发现胎儿双侧肾脏持续偏小，于妊娠26周时接受了羊水穿刺。染色体微阵列分析（CMA）检测到1q23.3区域有一个1.871 Mb的新发缺失。该缺失包含PBX1和LMX1A两个基因。据报道，PBX1单倍体不足会导致人类出现综合征性先天性肾脏和泌尿系统异常（CAKUT）。此外，在妊娠31周时，发现羊水过少临界值和胎儿生长受限。最终，妊娠在32周时终止，娩出一名体重1500克的女胎，其左手多指。
该病例与先前发表的产前病例的共同表型表明，对于出现双侧肾发育不全、羊水过少和宫内生长迟缓（IUGR）的胎儿，应怀疑存在PBX1功能丧失突变。
