AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

Edgerley Katharine; Barnicoat Angela; Offiah Amaka C.; Calder Alistair D.; Mankad Kshitij; Thomas Nicholas Simon; Bunyan David J.; Williams Maggie; Buxton Chris; Majumdar Arniban; Vijayakumar Kayal; Hilliard Tom; Turner James; Burren Christine P.; Monsell Fergal; Smithson Sarah F.

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AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

机译：AIFM1相关的X-LINKED Spondylomaphyseal发育不良，具有脑低聚髓鞘

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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.

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来源
《American journal of medical genetics, Part A》 |2021年第4期|共8页
作者
Edgerley Katharine; Barnicoat Angela; Offiah Amaka C.; Calder Alistair D.; Mankad Kshitij; Thomas Nicholas Simon; Bunyan David J.; Williams Maggie; Buxton Chris; Majumdar Arniban; Vijayakumar Kayal; Hilliard Tom; Turner James; Burren Christine P.; Monsell Fergal; Smithson Sarah F.;
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作者单位

Univ Hosp Bristol &

Weston NHS Fdn Trust Dept Clin Genet Bristol Avon England;

Great Ormond St Children NHS Fdn Trust Dept Clin Genet London England;

Univ Sheffield Dept Oncol &

Metab Sheffield S Yorkshire England;

Great Ormond St Hosp Children NHS Fdn Trust Radiol Dept London England;

Great Ormond St Hosp Children NHS Fdn Trust Radiol Dept London England;

Univ Southampton Human Dev &

Hlth Fac Med Southampton Hants England;

Univ Southampton Human Dev &

Hlth Fac Med Southampton Hants England;

Southmead Hosp Bristol Genet Lab South West Genom Lab Hub North Bristol NHS Trust Bristol Avon;

Southmead Hosp Bristol Genet Lab South West Genom Lab Hub North Bristol NHS Trust Bristol Avon;

Univ Hosp Bristol &

Weston NHS Fdn Trust Bristol Royal Hosp Children Dept Paediat Neurol Bristol;

Univ Hosp Bristol &

Weston NHS Fdn Trust Bristol Royal Hosp Children Dept Paediat Neurol Bristol;

Univ Hosp Bristol &

Weston NHS Fdn Trust Bristol Royal Hosp Children Dept Paediat Resp Med;

Univ Hosp Bristol &

Weston NHS Fdn Trust Bristol Royal Hosp Children Dept Paediat Orthopaed;

Univ Hosp Bristol &

Weston NHS Fdn Trust Bristol Royal Hosp Children Dept Paediat Endocrinol &

Univ Hosp Bristol &

Weston NHS Fdn Trust Bristol Royal Hosp Children Dept Paediat Orthopaed;

Univ Hosp Bristol &

Weston NHS Fdn Trust Dept Clin Genet Bristol Avon England;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
AIFM1; cerebral hypomyelination; hypomyelinating leukodystrophy; skeletal dysplasia; spondylometaphyseal dysplasia; SMD-H;

机译：aifm1;脑低聚髓鞘;黄萎病菌;骨骼发育不良;Spondylometaphyseal发育不良;SMD-H;

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1. Lymphoma and cerebral vasculitis in association with X-linked lymphoproliferative disease [J] . Jia Zhu, Yu Zhang, Zi-Jun Zhen, 癌症（英文版） . 2013,第012期
2. Clinical characteristics of fibromuscular dysplasia with severe headache misdiagnosed as cerebral artery dissec-tion: a case report [J] . Xiang Li, Jingwen Cui, Wei Huang, 转化神经科学电子杂志（英文） . 2020,第003期
3. Clinical characteristics of fibromuscular dysplasia with severe headache misdiagnosed as cerebral artery dissection: a case report [J] . Xiang Li, Jingwen Cui, Wei Huang, 转化神经科学电子杂志（英文） . 2020,第003期
4. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 [J] . Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, Neurogenetics . 2017,第4期

机译：X-Linked HymomeLination，与AIFM1中的突变相关的脊椎浮点细胞发育不良（H-SMD）
5. X-linked Hypomyelination with Spondylometaphyseal Dysplasia (H-SMD) [J] . Vanderver A., Miyake N., Cayami F., Annals of neurology . 2016,第S20期

机译：X连锁脊髓脱髓鞘合并椎体后凸发育不良（H-SMD）
6. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. [J] . Shihoko Kimura-Ohba, Kuriko Kagitani-Shimono, Natsuko Hashimoto, American journal of medical genetics, Part A . 2013,第1期

机译：脑脊髓发育不良合并脊柱-上pi-a骨发育不良一例。
7. Acetabular Direction and Capacity of Hip Joint Dysplasia in Cerebral Palsy - Counterpoint Option of Morphology Understanding [C] . M. Rychlik, M. Jozwiak, M. Idzior, Asia Pacific conference on biomechanics;International conference on biomedical engineering;ICBME;APBiomech;World congress of biomechanics;WCB 2010 . 2011

机译：脑瘫髋臼髋关节发育不良的髋臼方向和容量-形态学理解的对立选择。
8. Cellular development and differentiation in human cerebral cortical dysplasia. [D] . De Rosa, Michael John. 1994

机译：人脑皮质发育异常的细胞发育和分化。
9. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 [O] . Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, -1

机译：X连锁性髓鞘增生伴脊柱后phy突发育不良（H-SMD）与AIFM1突变相关
10. Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia [O] . Krakow Deborah, Vriens Joris, Camacho Natalia, 2009

机译：编码钙离子通道TRPV4的基因中的突变会导致椎弓根骨干发育异常，Kozlowski型和代谢异常。
11. Models of Cerebral-Body Perfusion and Cerebral Chemical Transport [R] . Sorek, S., Bear, J., Feinsod, M. 1988

机译：脑 - 体灌注和脑化学传递模型

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

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