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Case Reports
. 2021 Apr;185(4):1228-1235.
doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13.

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

Katharine Edgerley  1 , Angela Barnicoat  2 , Amaka C Offiah  3 , Alistair D Calder  4 , Kshitij Mankad  4 , Nicholas Simon Thomas  5   6 , David J Bunyan  5   6 , Maggie Williams  7 , Chris Buxton  7 , Arniban Majumdar  8 , Kayal Vijayakumar  8 , Tom Hilliard  9 , James Turner  10 , Christine P Burren  11 , Fergal Monsell  10 , Sarah F Smithson  1
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Free article
Case Reports

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

Katharine Edgerley et al. Am J Med Genet A. 2021 Apr.
Free article

Abstract

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.

Keywords: AIFM1; SMD-H; cerebral hypomyelination; hypomyelinating leukodystrophy; skeletal dysplasia; spondylometaphyseal dysplasia.

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References

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