[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation]

Zhonghua Yan Ke Za Zhi. 2023 Jun 11;59(6):484-487. doi: 10.3760/cma.j.cn112142-20220627-00316.
[Article in Chinese]

Abstract
in English, Chinese

Oliver-McFarlane syndrome is a rare genetic disorder characterized by long eyelashes, choroidoretinal atrophy, and multiple pituitary hormone deficiencies. The patient in this case is a 29-year-old female who has suffered from night blindness, low vision, and long eyelashes since childhood. Through genetic sequencing, she was diagnosed with compound heterozygous variaton in the PNPLA6 gene, indicating Oliver-McFarlane syndrome based on her comprehensive clinical presentation.

Oliver-McFarlane综合征是一种罕见的遗传病，以长睫毛、脉络膜视网膜萎缩和多种垂体激素缺乏为特征性改变。本例患者女性，29岁，自幼夜盲、视力低下、长睫毛，经基因测序检出PNPLA6基因复合杂合变异，综合临床表现诊断为Oliver-McFarlane综合征。.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Acyltransferases / genetics
  • Adult
  • Child
  • Female
  • Humans
  • Hypertrichosis* / diagnosis
  • Hypertrichosis* / genetics
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Mutation
  • Phospholipases / genetics
  • Retinitis Pigmentosa* / diagnosis
  • Retinitis Pigmentosa* / genetics

Substances

  • PNPLA6 protein, human
  • Acyltransferases
  • Phospholipases

Supplementary concepts

  • Oliver-McFarlane syndrome