Manna Sun1, Jiwu Lou1, Qiaoyi Li1, Jianhong Chen2, Yujuan Li1, Dongzhi Li3, Haiming Yuan1, Yanhui Liu4. 1. Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, Guangdong, People's Republic of China. 2. Prenatal Diagnostic Center, Huizhou Women & Children Hospital, Huizhou, Guangdong, People's Republic of China. 3. Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, People's Republic of China. 4. Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, Guangdong, People's Republic of China. Electronic address: liuliang71215@163.com.
Abstract
OBJECTIVES: To present the prenatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene. CASE REPORT: 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. CONCLUSIONS: 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).
OBJECTIVES: To present the prenatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene. CASE REPORT: 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. PBX1haploinsufficiency 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. CONCLUSIONS: 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).
Authors: Peer Arts; Jessica Garland; Alicia B Byrne; Tristan S E Hardy; Milena Babic; Jinghua Feng; Paul Wang; Thuong Ha; Sarah L King-Smith; Andreas W Schreiber; April Crawford; Nick Manton; Lynette Moore; Christopher P Barnett; Hamish S Scott Journal: Am J Med Genet A Date: 2020-03-06 Impact factor: 2.802