X-linked dominant chondrodysplasia punctata 2 with severe phenotype in one female fetus: a case report

Q4 Medicine

中华围产医学杂志 Pub Date : 2019-08-16 DOI:10.3760/CMA.J.ISSN.1007-9408.2019.08.014

Yan Liu, Qing-qing Wu, Li Wang, Bin Xu, Yike Yang

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Abstract

We reported a female fetus diagnosed with X-linked dominant chondrodysplasia punctata 2 with severe phenotype. The fetus was found with abnormal short limbs, thick metaphysis on the right lower limb and a narrow and small thorax by prenatal ultrasound at 24+5 weeks of gestation. Non-invasive prenatal test indicated the risks of trisomies 21, 18 and 13 were low. The pregnancy was terminated at 27 weeks of gestation and postnatal X-ray imaging showed that the fetus had short femur and humerus, a narrow and small thorax, thickened metaphysis with a "splashed paint spot" pattern, and asymmetric shortened lower limbs. Whole-exome analysis showed that the fetus carried a heterozygous pathogenic mutation c.440G>A (p.Arg147His) in the EBP gene. The mutation was confirmed to be a de novo mutation as neither of her parents carried the same mutation. Thus, the patient was diagnosed as having X-linked dominant chondrodysplasia punctata 2. The severe phenotype of this case migh be related to random X chromosome inactivation. Key words: Chondrodysplasia punctata; Ultrasonography, prenatal; Whole exome sequencing; Female

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一例女性胎儿具有严重表型的X连锁显性点状软骨发育不良2例报告

我们报告了一个女性胎儿诊断为x连锁显性点状软骨发育不良2与严重表型。妊娠24+5周产前超声检查发现胎儿四肢异常短，右下肢干骺端粗大，胸窄小。无创产前检查提示21,18和13三体的风险较低。妊娠27周终止妊娠，产后x线示胎儿股骨、肱骨短，胸窄小，干骺端增厚，有“飞溅油彩斑”状，下肢不对称缩短。全外显子组分析显示胎儿携带EBP基因的杂合致病突变c.440G> a (p.a g147 his)。这种突变被证实是一种新生突变，因为她的父母都没有携带同样的突变。因此，患者被诊断为x连锁显性点状软骨发育不良2型。该病例的严重表型可能与随机X染色体失活有关。关键词:点状软骨发育不良;产前超声;全外显子组测序;女

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来源期刊

中华围产医学杂志 Medicine-Obstetrics and Gynecology

CiteScore

0.70

自引率

0.00%

发文量

4446

期刊介绍： Chinese Journal of Perinatal Medicine was founded in May 1998. It is one of the journals of the Chinese Medical Association, which is supervised by the China Association for Science and Technology, sponsored by the Chinese Medical Association, and hosted by Peking University First Hospital. Perinatal medicine is a new discipline jointly studied by obstetrics and neonatology. The purpose of this journal is to "prenatal and postnatal care, improve the quality of the newborn population, and ensure the safety and health of mothers and infants". It reflects the new theories, new technologies, and new progress in perinatal medicine in related disciplines such as basic, clinical and preventive medicine, genetics, and sociology. It aims to provide a window and platform for academic exchanges, information transmission, and understanding of the development trends of domestic and foreign perinatal medicine for the majority of perinatal medicine workers in my country.