Department of Medical Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Department of Pathology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
Am J Med Genet A. 2020 Jun;182(6):1473-1476. doi: 10.1002/ajmg.a.61559. Epub 2020 Mar 20.
Neu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents.
神经松弛综合征（NLS）是一种致命的遗传性多发先天畸形综合征，其发病率未知，代表着与 PHGDH、PSAT1 或 PSP 基因突变相关的丝氨酸生物合成缺陷的严重谱。本研究的目的是描述由其同系父母携带的 PHGDH 基因中新型杂合错义变异引起的 NLS 病例的临床/分子和病理特征。
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