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

doi:10.1002/ajmg.a.62072

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 journal › Article (Academic Journal) › peer-review

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.

Original language	English
Pages (from-to)	1228-1235
Number of pages	8
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	4
Early online date	13 Jan 2021
DOIs	https://doi.org/10.1002/ajmg.a.62072
Publication status	Published - 15 Mar 2021

Keywords

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

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10.1002/ajmg.a.62072

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Edgerley, K., Barnicoat, A., Offiah, A. C., Calder, A. D., Mankad, K., Thomas, N. S., Bunyan, D. J., Williams, M., Buxton, C., Majumdar, A., Vijayakumar, K., Hilliard, T., Turner, J., Burren, C. P., Monsell, F., & Smithson, S. F. (2021). AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination. American Journal of Medical Genetics, Part A, 185(4), 1228-1235. https://doi.org/10.1002/ajmg.a.62072

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. / AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination. In: American Journal of Medical Genetics, Part A. 2021 ; Vol. 185, No. 4. pp. 1228-1235.

@article{e12242f2daf2451cb9d91696942dfba7,

title = "AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination",

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, cerebral hypomyelination, hypomyelinating leukodystrophy, skeletal dysplasia, spondylometaphyseal dysplasia, SMD-H",

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

year = "2021",

month = mar,

day = "15",

doi = "10.1002/ajmg.a.62072",

language = "English",

volume = "185",

pages = "1228--1235",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley",

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Edgerley, K, Barnicoat, A, Offiah, AC, Calder, AD, Mankad, K, Thomas, NS, Bunyan, DJ, Williams, M, Buxton, C, Majumdar, A, Vijayakumar, K, Hilliard, T, Turner, J, Burren, CP, Monsell, F & Smithson, SF 2021, 'AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination', American Journal of Medical Genetics, Part A, vol. 185, no. 4, pp. 1228-1235. https://doi.org/10.1002/ajmg.a.62072

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.

In: American Journal of Medical Genetics, Part A, Vol. 185, No. 4, 15.03.2021, p. 1228-1235.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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

PY - 2021/3/15

Y1 - 2021/3/15

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.

KW - AIFM1

KW - cerebral hypomyelination

KW - hypomyelinating leukodystrophy

KW - skeletal dysplasia

KW - spondylometaphyseal dysplasia

KW - SMD-H

U2 - 10.1002/ajmg.a.62072

DO - 10.1002/ajmg.a.62072

M3 - Article (Academic Journal)

C2 - 33439541

VL - 185

SP - 1228

EP - 1235

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

Abstract

Keywords

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