AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination
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 Ex...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2021-04, Vol.185 (4), p.1228-1235 |
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| container_title | American journal of medical genetics. Part A |
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| creator | 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. |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.62072 |
| format | Article |
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Part A</title><addtitle>Am J Med Genet A</addtitle><description>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.</description><subject>AIFM1</subject><subject>cerebral hypomyelination</subject><subject>hypomyelinating leukodystrophy</subject><subject>Leukodystrophy</subject><subject>Myelination</subject><subject>Phenotypes</subject><subject>skeletal dysplasia</subject><subject>SMD‐H</subject><subject>Spondylometaphyseal dysplasia</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNp9kMtKw0AUhgdRbK3uXEvAralzTTLLUGyttLhR0NVwkkxsam5mUkp2PoLP6JM4NbVLV-fCd74DP0KXBI8JxvQW1sXbGMYexT49QkMiBHV5wNjxoadigM6MWWPMsPC9UzRgjDMpOBmi13A-XZLvzy8wpoozaHXivNgxz8p325q6KpMurwrdQr3qjIbcSTpT52AycLZZu3Ji3eiosftVV1dFp-0ltFlVnqOTFHKjL_Z1hJ6nd0-Te3fxOJtPwoUbM09SFxgnwKLIk4LgRGrmR0JCjIFo8KgAHqSpwKkIcALgxamW2k9jnBDOfeHLiI3Qde-tm-pjo02r1tWmKe1LRQUmgU8DLi1101NxUxnT6FTVTVZA0ymC1S5HtctRgfrN0eJXe-kmKnRygP-CswDvgW2W6-5fmQoflrOw9_4AdFyCRw</recordid><startdate>202104</startdate><enddate>202104</enddate><creator>Edgerley, Katharine</creator><creator>Barnicoat, Angela</creator><creator>Offiah, Amaka C.</creator><creator>Calder, Alistair D.</creator><creator>Mankad, Kshitij</creator><creator>Thomas, Nicholas Simon</creator><creator>Bunyan, David J.</creator><creator>Williams, Maggie</creator><creator>Buxton, Chris</creator><creator>Majumdar, Arniban</creator><creator>Vijayakumar, Kayal</creator><creator>Hilliard, Tom</creator><creator>Turner, James</creator><creator>Burren, Christine P.</creator><creator>Monsell, Fergal</creator><creator>Smithson, Sarah F.</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><orcidid>https://orcid.org/0000-0002-8260-3010</orcidid><orcidid>https://orcid.org/0000-0001-8686-558X</orcidid></search><sort><creationdate>202104</creationdate><title>AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination</title><author>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.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3692-a341a3bb69510d9e37b59ac0a1ea625a48ff50f580daa6cfe9e7fc0d1447579b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>AIFM1</topic><topic>cerebral hypomyelination</topic><topic>hypomyelinating leukodystrophy</topic><topic>Leukodystrophy</topic><topic>Myelination</topic><topic>Phenotypes</topic><topic>skeletal dysplasia</topic><topic>SMD‐H</topic><topic>Spondylometaphyseal dysplasia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Edgerley, Katharine</creatorcontrib><creatorcontrib>Barnicoat, Angela</creatorcontrib><creatorcontrib>Offiah, Amaka C.</creatorcontrib><creatorcontrib>Calder, Alistair D.</creatorcontrib><creatorcontrib>Mankad, Kshitij</creatorcontrib><creatorcontrib>Thomas, Nicholas Simon</creatorcontrib><creatorcontrib>Bunyan, David J.</creatorcontrib><creatorcontrib>Williams, Maggie</creatorcontrib><creatorcontrib>Buxton, Chris</creatorcontrib><creatorcontrib>Majumdar, Arniban</creatorcontrib><creatorcontrib>Vijayakumar, Kayal</creatorcontrib><creatorcontrib>Hilliard, Tom</creatorcontrib><creatorcontrib>Turner, James</creatorcontrib><creatorcontrib>Burren, Christine P.</creatorcontrib><creatorcontrib>Monsell, Fergal</creatorcontrib><creatorcontrib>Smithson, Sarah F.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics. 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| subjects | AIFM1 cerebral hypomyelination hypomyelinating leukodystrophy Leukodystrophy Myelination Phenotypes skeletal dysplasia SMD‐H Spondylometaphyseal dysplasia |
| title | AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination |
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