一名男性婴儿存在 Xq22.2q22.3 重复，包含 PLP1 和 MID2。

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

机构信息

Department of Pediatrics St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.

Tricore Reference Laboratory, Albuquerque, NM, USA.

出版信息

Mol Genet Genomic Med. 2020 Mar;8(3):e1078. doi: 10.1002/mgg3.1078. Epub 2020 Jan 17.

DOI:10.1002/mgg3.1078

PMID:31951325

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7057127/

Abstract

BACKGROUND

The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region.

METHODS

We report on a male infant with intrauterine growth retardation (IUGR) who developed head titubation and spasticity during his postnatal hospital course.

RESULTS

Chromosome microarray revealed a 6.7 Mb interstitial duplication of Xq22.2q22.3. Fluorescence in situ hybridization showed that the patient's mother also possessed the identical duplication in the Xq22.3q22.3 region. Among the 34 OMIM genes in this interval, the duplication of the PLP1 (OMIM# 300401) and MID2 (OMIM# 300204) appears to be the most significant contributors to the patient's clinical features. Mutations and duplications of PLP1 are associated with X-linked recessive Pelizaeus-Merzbacher disease (PMD). A single case of a Xq22.3 duplication including the MID2 has been reported in boy with features of FG syndrome. However, our patient's clinical features are not consistent with the FG syndrome phenotype.

CONCLUSION

Our patient's clinical features appear to be influenced by the PLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.

摘要

背景

Xq22.2q23 是一个复杂的基因组区域，包含与 FG 综合征 5 相关的 MID2 和 PLP1 基因，分别与 Pelizaeus-Merzbacher 病相关。关于该区域缺失患者观察到的临床结果的信息有限。

方法

我们报告了一名男性婴儿，宫内生长受限（IUGR），在出生后的住院过程中出现头部倾斜和痉挛。

结果

染色体微阵列显示 Xq22.2q22.3 存在 6.7Mb 间质重复。荧光原位杂交显示患者的母亲在 Xq22.3q22.3 区域也具有相同的重复。在这个间隔的 34 个 OMIM 基因中，PLP1（OMIM#300401）和 MID2（OMIM#300204）的重复似乎是导致患者临床特征的最重要因素。PLP1 的突变和重复与 X 连锁隐性 Pelizaeus-Merzbacher 病（PMD）有关。已经在一个男孩中报道了包括 MID2 在内的 Xq22.3 重复的单一病例，具有 FG 综合征的特征。然而，我们患者的临床特征与 FG 综合征表型不一致。