AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination
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DOI：
10.1002/ajmg.a.62072
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发表时间：
2021-01-13
影响因子：
2
通讯作者：
Smithson, Sarah F.
中科院分区：
文献类型：
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作者：
Edgerley, Katharine;Barnicoat, Angela;Smithson, Sarah F.
摘要脊椎骨突出发育不良合并脑髓鞘化不足是一种非常罕见但独特的表现型，通常是脊椎骨突出发育不良合并脑白质营养不良。最近，SMD-H与局限于涉及外显子7的特定基因内位点的变体相关，表明AIFM 1在骨发育和代谢以及脑髓鞘形成中起重要作用。在这里，我们描述了两个进一步受影响的男孩，一个与AIFM 1外显子7跳跃相关的新的内含子变异，另一个是AIFM 1外显子7内的同义变异。我们描述了他们的临床过程和放射学和遗传学研究结果，提供了进一步了解这种情况的自然史。
Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD-H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia with hypomyelinating leukodystrophy. Recently, SMD-H has been associated with variants confined to a specific intra-genic locus involving Exon 7, suggesting that AIFM1 plays an important role in bone development and metabolism as well as cerebral myelination. Here we describe two further affected boys, one with a novel intronic variant associated with skipping of Exon 7 of AIFM1 and the other a synonymous variant within Exon 7 of AIFM1. We describe their clinical course and radiological and genetic findings, providing further insight into the natural history of this condition.