Complex glycerol kinase deficiency syndrome explained as X‐chromosomal deletion
Complex glycerol kinase deficiency syndrome explained as X‐chromosomal deletion
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复杂甘油激酶缺乏综合征被解释为 X 染色体缺失
DOI：
10.1111/j.1399-0004.1985.tb00244.x
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发表时间：
1985
影响因子：
3.5
通讯作者：
B. Haar
中科院分区：
文献类型：
--
作者：
B. Wieringa;T. Hustinx;J. Scheres;W. Renier;B. Haar
先生们，最近，我们中的几个人描述了一个家庭，其中三个男孩患有明显的 X 连锁综合征，包括类似于杜氏型的进行性肌营养不良、肾上腺发育不全 (AH) 和甘油激酶 (GK) 缺乏 (Reiner 等人，1983)。由于 DMD、AH 和 GK 缺陷是独立的 X 连锁实体，我们认为这种疾病可能是由包括三个各自基因位点的小缺失引起的。与此同时，已经描述了一些 GK 缺乏症病例，这些病例在临床上与我们的病例非常相似（v. Petrykowski et al. 1982、Bartley et al. 1982、Ginns et al. 1984）。这表明这些病例中的所有症状都是 GK 缺乏的多效性影响，因此与 GK 缺乏有因果关系。根据这一假设，GK 综合征显着的临床异质性（Ginns 等，1984）可能归因于等位基因变异。或者，异质性可以解释为某些情况是由点突变引起的，而另一些情况是由删除或不同大小的删除引起的。为了在这些解释之间做出决定，我们重新检查了我们家中两个受影响的男孩，用 X 染色体短臂的克隆序列探测了他们的 DNA。其中之一是最近从 Xp 中部分离出的 754 探针（M. H. Hofker* 等人 1985 [正在出版]）在 PstI、BglII 中始终未能产生杂交信号
Sirs, Recently, several of us described a family in which three boys suffered from an apparently X-linked syndrome consisting of progressive muscular dystrophy similar to the Duchenne type, adrenal hypoplasia (AH) and glycerol kinase (GK) deficiency (Reiner et al. 1983). Because DMD, AH and GK deficiency are separate X-linked entities, we considered that this disorder might be caused by a small deletion including the three respective gene loci. In the meantime, several cases with GK deficiency have been described that are clinically very similar to our cases (v. Petrykowski et al. 1982, Bartley et al. 1982, Ginns et al. 1984). This has opened up the possibility that all symptoms in these cases are pleiotropic effects of, and thus causally related to, GK deficiency. According to this hypothesis, the marked clinical heterogeneity of the GK syndrome (Ginns et al. 1984) might be attributable to allelic variation. Alternatively, heterogeneity could be explained by some cases being caused by point mutations and others by deletions, or by deletions of varying size. In an attempt to decide between these interpretations we have re-examined two affected boys of our family by probing their DNA with cloned sequences from the short arm of the X-chromosome. One of these, the recently isolated 754 probe from the middle of Xp (M. H. Hofker* el al. 1985 [in press]) consistently failed to yield hybridization signals in PstI, BglII
一种青少年型甘油激酶缺乏症，伴有阵发性呕吐、酸血症和昏迷。
DOI：
10.1016/s0022-3476(84)80956-7
发表时间：
1984
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Ginns,EI;Barranger,JA;McClean,SW;Sliva,C;Young,R;Schaefer,E;Goodman,SI;McCabe,ER
通讯作者：
McCabe,ER