The patatin-like protein family plays an important role in various biological functions including lipid homeostasis, cellular growth, and signaling. Conserved across species, the patatin domain is shared by all 9 members of the PNPLA family without redundancy in the coding sequences. The defective function of PNPLA2, PNPLA6, and PNPLA9 are known to cause mitochondrial-related neurodegeneration. Recently, PNPLA8 has been associated with mitochondrial myopathy and poor weight gain with lactic acidosis in 3 unrelated families. Using whole-exome sequencing, we identified a homozygous novel missense variation c.1874A#x3e;G in the patatin domain of PNPLA8. The patient had prenatal-onset severe and progressive neurodegeneration with mortality in infancy.
Mol Syndromol

中文翻译：

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PNPLA8 纯合错义变异导致产前严重神经变性

patatin 样蛋白家族在各种生物学功能中起着重要作用，包括脂质稳态、细胞生长和信号传导。跨物种保守，patatin 域由 PNPLA 家族的所有 9 个成员共享，编码序列中没有冗余。已知PNPLA2、PNPLA6和PNPLA9 的功能缺陷会导致线粒体相关的神经变性。最近，PNPLA8与 3 个无关家族的线粒体肌病和体重增加不良以及乳酸酸中毒有关。在的patatin启动域G;使用全基因组测序，我们确定了纯合的新的错义变异c.1874A＃x3e PNPLA8. 该患者有产前发病的严重和进行性神经变性，婴儿期死亡。
摩尔综合征