AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

被引：4

作者：

Edgerley, Katharine ^{[1
]}

Barnicoat, Angela ^{[2
]}

Offiah, Amaka C. ^{[3
]}

Calder, Alistair D. ^{[4
]}

Mankad, Kshitij ^{[4
]}

Thomas, Nicholas Simon ^{[5
,6
]}

Bunyan, David J. ^{[5
,6
]}

Williams, Maggie ^{[7
]}

Buxton, Chris ^{[7
]}

Majumdar, Arniban ^{[8
]}

Vijayakumar, Kayal ^{[8
]}

Hilliard, Tom ^{[9
]}

Turner, James ^{[10
]}

Burren, Christine P. ^{[11
]}

Monsell, Fergal ^{[10
]}

Smithson, Sarah F. ^{[1
]}

机构：

[1] Univ Hosp Bristol & Weston NHS Fdn Trust, Dept Clin Genet, Bristol, Avon, England

[2] Great Ormond St Children NHS Fdn Trust, Dept Clin Genet, London, England

[3] Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England

[4] Great Ormond St Hosp Children NHS Fdn Trust, Radiol Dept, London, England

[5] Univ Southampton, Human Dev & Hlth, Fac Med, Southampton, Hants, England

[6] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England

[7] Southmead Hosp, Bristol Genet Lab, South West Genom Lab Hub, North Bristol NHS Trust, Bristol, Avon, England

[8] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Neurol, Bristol, Avon, England

[9] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Resp Med, Bristol, Avon, England

[10] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Orthopaed, Bristol, Avon, England

[11] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Endocrinol & Diabet, Bristol, Avon, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 04期

关键词：

AIFM1; cerebral hypomyelination; hypomyelinating leukodystrophy; skeletal dysplasia; spondylometaphyseal dysplasia; SMD-H; MUTATIONS;

D O I：

10.1002/ajmg.a.62072

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1228 / 1235

页数：8

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