两名南非PGAP3相关Mabry综合征患者碱性磷酸酶水平异常低

IF 0.2 Q4 PEDIATRICS
S. Moosa
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引用次数: 0

摘要

高磷酸症伴智力迟钝综合征(HPMRS),也称为Mabry综合征,是一种常染色体隐性遗传病,与遗传性糖基磷脂酰肌醇(GPI)缺乏症相关。这种遗传异质性疾病可由编码糖基磷脂酰肌醇(GPI)锚定生物合成途径分子的七个基因变异引起,即PIGL、PIGO、PIGV、PIGW、PIGY、PGAP2和PGAP3。最近,在3名无关的南非HMPRS患者中发现了PGAP3的致病性变异。本文描述了另外两名具有PGAP3完全变体的患者。通常,HMPRS与碱性磷酸酶(ALP)水平升高有关。有趣的是,这两名患者在初次就诊时ALP水平异常低。这是一个重要的观察结果,因为ALP水平经常被用作筛选试验,以决定是否进行确证性基因检测。这些患者表明,在pgap3相关的Mabry综合征中,ALP水平可能很低,尽管这是一种罕见的发现。因此,对于具有典型面部畸形特征和严重神经发育迟缓的患者,即使在没有ALP升高的情况下,也应保持对该疾病的高度怀疑。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Two South African patients with PGAP3-related Mabry syndrome with unusually low alkaline phosphatase levels
Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disease that is associated with inherited glycosylphosphatidylinositol (GPI) deficiencies. This genetically heterogeneous disorder can be caused by variants in seven genes that encode molecules of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, namely PIGL, PIGO, PIGV, PIGW, PIGY, PGAP2 and PGAP3. Recently, a pathogenic variant in PGAP3 was identified in 3 unrelated South African patients with HMPRS. Here, two further patients with the exact variant in PGAP3 are described. Classically, HMPRS is associated with elevated alkaline phosphatase (ALP) levels. Interestingly, these two patients had unusually low ALP levels at initial presentation. This is an important observation, as the ALP level is often used as a screening test to decide whether to proceed to confirmatory genetic testing. These patients illustrate that in PGAP3-related Mabry syndrome, ALP levels can be low, albeit a rare finding. Hence, a high suspicion for the disorder should be maintained in patients with typical facial dysmorphic features and severe neurodevelopmental delay, even in the absence of elevated ALP.
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来源期刊
CiteScore
0.60
自引率
0.00%
发文量
21
审稿时长
12 weeks
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