A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome

Zheng,Ruizhi; Zhao,Yaguang; Wu,Jiayu; Wang,Yuanmei; Liu,Jian‑Ling; Zhou,Zhi‑Ling; Zhou,Xiao‑Tao; Chen,Dan‑Na; Liao,Wei‑Hua; Li,Jia‑Da

doi:10.3892/mmr.2018.8955

A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome

Authors:
- Ruizhi Zheng
- Yaguang Zhao
- Jiayu Wu
- Yuanmei Wang
- Jian‑Ling Liu
- Zhi‑Ling Zhou
- Xiao‑Tao Zhou
- Dan‑Na Chen
- Wei‑Hua Liao
- Jia‑Da Li
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Affiliations: Department of Endocrinology, The People's Hospital of Henan Province, Zhengzhou, Henan 450003, P.R. China, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, P.R. China, Department of Radiology, Xiangya Hospital, Central South University, Changsha, Hunan 410083, P.R. China, Department of Immunology, Xinjiang Medical University, Urumqi, Xinjiang Uygur Autonomous Region 830054, P.R. China, Department of Basic Medical Sciences, Changsha Medical University, Changsha, Hunan 410219, P.R. China
Published online on: May 3, 2018 https://doi.org/10.3892/mmr.2018.8955
Pages: 261-267
Copyright: © Zheng et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been associated with autosomal‑recessive mutations in the patatin‑like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have been reported in mainland China. In the present study, to the best of the authors' knowledge, the first patient with BNS was identified in China. A 39‑year‑old male was first diagnosed with hypogonadotropic hypogonadism. The proband additionally exhibited retinal degeneration and cerebellar dystrophy. Whole exome sequencing identified a compound heterozygous mutation in PNPLA6 (c.3386G>T+ c.3534G>C). The mutant amino acids were highly conserved and the mutations were predicted to be deleterious. This result further confirmed the role of PNPLA6 in BNS and suggested that whole exome sequencing may be applied for the diagnosis of complex syndromes, including BNS, prior to the observation of obvious symptoms.

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