AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

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

Research output: Contribution to journalArticle (Academic Journal)peer-review


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.

Original languageEnglish
Pages (from-to)1228-1235
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
Early online date13 Jan 2021
Publication statusPublished - 15 Mar 2021


  • AIFM1
  • cerebral hypomyelination
  • hypomyelinating leukodystrophy
  • skeletal dysplasia
  • spondylometaphyseal dysplasia
  • SMD-H


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