TY - JOUR
T1 - AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination
AU - Edgerley, Katharine
AU - Barnicoat, Angela
AU - Offiah, Amaka C
AU - Calder, Alistair D
AU - Mankad, Kshitij
AU - Thomas, Nicholas Simon
AU - Bunyan, David J
AU - Williams, Maggie
AU - Buxton, Chris
AU - Majumdar, Arniban
AU - Vijayakumar, Kayal
AU - Hilliard, Tom
AU - Turner, James
AU - Burren, Christine P
AU - Monsell, Fergal
AU - Smithson, Sarah F
N1 - © 2021 Wiley Periodicals LLC.
PY - 2021/1/13
Y1 - 2021/1/13
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.62072
DO - 10.1002/ajmg.a.62072
M3 - Article (Academic Journal)
C2 - 33439541
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
ER -