Shirai Kentaro, Higashi Yuya, Shimojima Keiko, Yamamoto Toshiyuki
Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
Department of Neonatology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
Am J Med Genet A. 2017 Apr;173(4):1124-1127. doi: 10.1002/ajmg.a.38134.
The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD). Compared to PLP1 duplications, which are a major contributor to PMD, chromosomal deletions in this region are rare and only a few PMD patients with small deletions have been reported, suggesting that large deletions of this region would cause embryonic lethality. Previously, we have reported female patients, with chromosomal deletions in this region, who showed severe developmental delays and behavioral abnormalities. In this study, we identified the first case of a male patient associated with an Xq22 nullisomy in a region proximal to PLP1. The patient showed severe neurological impairment and was bedridden. Brain magnetic resonance imaging revealed a severely reduced cerebral volume. The chromosomal region proximal to PLP1 was considered to be significantly important for brain development.
蛋白脂质蛋白1基因（PLP1）位于X染色体q22.2，与X连锁隐性脑白质病（佩利措伊斯-梅茨巴赫病：PMD）相关。与作为PMD主要病因的PLP1重复相比，该区域的染色体缺失较为罕见，仅有少数小缺失的PMD患者被报道，这表明该区域的大片段缺失会导致胚胎致死。此前，我们报道过该区域存在染色体缺失的女性患者，她们表现出严重的发育迟缓及行为异常。在本研究中，我们鉴定出首例与PLP1近端区域Xq22单体相关的男性患者。该患者表现出严重的神经功能损害，卧床不起。脑磁共振成像显示脑容量严重减少。PLP1近端的染色体区域被认为对脑发育极为重要。
