新拉索瓦综合征:胎儿PHGDH基因突变1例并文献复习。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-09-01 DOI:10.1055/s-0041-1726038

Ravi Kapoor, Seema Thakur, Aakar Kapoor, Sunita Kapoor, Apurva Kalra, Aakriti Kapoor

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引用次数: 0

摘要

新拉索瓦综合征(NLS)是一组罕见的先天性畸形，包括宫内生长迟缓(IUGR)、中枢神经系统畸形、小头畸形、面部异常、鱼鳞病、全身性水肿、肢体异常、羊水过多和围产期死亡。我们在此报告一例妊娠25周的胎儿，胎儿的产前超声和胎儿的磁共振成像检测到IUGR，面部和肢体异常，大脑光滑，并经尸检证实。新一代测序分析发现了一种新的PHGDH基因纯合错义突变。有遗传病因的NLS仅报道了35例。这是印度报道的首例PHGDH突变病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review.

Neu-Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.

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来源期刊

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.