AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

被引：4

作者：

Edgerley, Katharine ^{[1
]}

Barnicoat, Angela ^{[2
]}

Offiah, Amaka C. ^{[3
]}

Calder, Alistair D. ^{[4
]}

Mankad, Kshitij ^{[4
]}

Thomas, Nicholas Simon ^{[5
,6
]}

Bunyan, David J. ^{[5
,6
]}

Williams, Maggie ^{[7
]}

Buxton, Chris ^{[7
]}

Majumdar, Arniban ^{[8
]}

Vijayakumar, Kayal ^{[8
]}

Hilliard, Tom ^{[9
]}

Turner, James ^{[10
]}

Burren, Christine P. ^{[11
]}

Monsell, Fergal ^{[10
]}

Smithson, Sarah F. ^{[1
]}

机构：

[1] Univ Hosp Bristol & Weston NHS Fdn Trust, Dept Clin Genet, Bristol, Avon, England

[2] Great Ormond St Children NHS Fdn Trust, Dept Clin Genet, London, England

[3] Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England

[4] Great Ormond St Hosp Children NHS Fdn Trust, Radiol Dept, London, England

[5] Univ Southampton, Human Dev & Hlth, Fac Med, Southampton, Hants, England

[6] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England

[7] Southmead Hosp, Bristol Genet Lab, South West Genom Lab Hub, North Bristol NHS Trust, Bristol, Avon, England

[8] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Neurol, Bristol, Avon, England

[9] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Resp Med, Bristol, Avon, England

[10] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Orthopaed, Bristol, Avon, England

[11] Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Royal Hosp Children, Dept Paediat Endocrinol & Diabet, Bristol, Avon, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 04期

关键词：

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

D O I：

10.1002/ajmg.a.62072

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1228 / 1235

页数：8

共 50 条

[41] HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism [J].

He, Na ;

Guan, Bao-Zhu ;

Wang, Jie ;

Liu, Han-Kui ;

Mao, Yong ;

Liu, Zhi-Gang ;

Yin, Fei ;

Peng, Jing ;

Xiao, Bo ;

Tang, Bei-sha ;

Zhou, Dong ;

Huang, Guang ;

Dai, Qi-Lin ;

Zeng, Ying ;

Han, Hong ;

Zhai, Qiong-Xiang ;

Li, Bin ;

Tang, Bin ;

Li, Wen-Bin ;

Song, Wang ;

Liu, Liu ;

Shi, Yi-Wu ;

Li, Bing-Mei ;

Su, Tao ;

Zhou, Peng ;

Liu, Xiao-Rong ;

Guo, Li-Wu ;

Yi, Yong-Hong ;

Liao, Wei-Ping .

CLINICAL AND TRANSLATIONAL MEDICINE, 2023, 13 (06)

[42] Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder [J].

Sekiguchi, Mari ;

Katayama, Syouichi ;

Hatano, Naoya ;

Shigeri, Yasushi ;

Sueyoshi, Noriyuki ;

Kameshita, Isamu .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 2013, 535 (02) :257-267

[43] Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series [J].

Broeren, Eleanor ;

Stover, Samantha ;

Bennett, Katya ;

Giordano, Jessica ;

Galloway, Stephanie ;

Lauzon, Julie ;

Rust, Laura ;

Suerink, Manon ;

van Haeringen, Arie ;

Reimers, Rebecca .

PRENATAL DIAGNOSIS, 2024, 44 (13) :1663-1670

[44] X-linked hydrocephalus:: Another two families with an L1 mutation [J].

Criado, GR ;

Aytés, AP ;

Martínez, F ;

Vos, YJ ;

Verlind, E ;

López, AGM ;

Sánchez, IGD ;

Schrander-Stumpel, C .

GENETIC COUNSELING, 2003, 14 (01) :57-65

[45] COMBINED PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY AND MONOGENIC DISEASE IN A MEXICAN FAMILY AFFECTED BY X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA [J].

Eduardo Pina-Aguilar, Raul ;

Gonzalez-Ortega, Claudia ;

Calull-Bago, Anna ;

Cristina Lanuza-Lopez, Maria ;

Cancino-Villarreal, Patricia ;

Mireya Gutierrez-Gamino, Ana ;

Martin Gutierrez-Gutierrez, Antonio .

REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 2018, 70 (04) :164-168

[46] X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families [J].

Lexner, M. O. ;

Bardow, A. ;

Juncker, I. ;

Jensen, L. G. ;

Almer, L. ;

Kreiborg, S. ;

Hertz, J. M. .

CLINICAL GENETICS, 2008, 74 (03) :252-259

[47] Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome [J].

Carlston, Colleen M. ;

Bleyl, Steven B. ;

Andrews, Ashley ;

Meyers, Lindsay ;

Brown, Sara ;

Bayrak-Toydemir, Pinar ;

Bale, James F. ;

Botto, Lorenzo D. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (05) :792-796

[48] Fatal Hemophagocytic Lymphohistiocytosis in X-Linked Chronic Granulomatous Disease Associated With a Perforin Gene Variant [J].

van Montfrans, Joris A. ;

Rudd, Eva ;

van de Corput, Lisette ;

Henter, Jan-Inge ;

Nikkels, Peter ;

Wulffraat, Nico ;

Boelens, Jaap J. .

PEDIATRIC BLOOD & CANCER, 2009, 52 (04) :527-529

[49] X-linked Hyper IgM Syndrome: A Novel Sequence Variant Associated With An Atypical Mild Phenotype [J].

Buchbinder, David ;

Park, Sang ;

Nugent, Diane .

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2012, 34 (05) :E212-E214

[50] Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability [J].

Tian, Mao-Qiang ;

Liu, Xiao-Rong ;

Lin, Si-Mei ;

Wang, Jie ;

Luo, Sheng ;

Gao, Liang-Di ;

Chen, Xiao-Bin ;

Liang, Xiao-Yu ;

Liu, Zhi-Gang ;

He, Na ;

Yi, Yong-Hong ;

Liao, Wei-Ping .

CNS NEUROSCIENCE & THERAPEUTICS, 2023, 29 (02) :727-735

← 1 2 3 4 5 →