Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

被引：5

作者：

Renard, Dimitri ^{[1
]}

Taieb, Guillaume ^{[1
]}

Garibaldi, Matteo ^{[2
,3
]}

De Paula, Andre Maues ^{[4
]}

Bernard, Rafaelle ^{[5
,6
,7
]}

Lagha, Nadira ^{[8
]}

Cristofari, Gael ^{[8
,9
]}

Vovan, Catherine ^{[5
,6
]}

Chaix, Charlene ^{[5
,6
]}

Levy, Nicolas ^{[5
,6
,7
]}

Van Kien, Philippe Khau ^{[10
]}

Sacconi, Sabrina ^{[2
,8
]}

机构：

[1] Hop Caremeau, CHU Nimes, Dept Neurol, 4 Rue Pr Debre, F-30029 Nimes 4, France

[2] Univ Cote Azur, Nice Univ Hosp, Peripheral Nervous Syst, Muscle & ALS Dept, Nice, France

[3] Sapienza Univ Rome, Fac Med & Psychol, Rome, Italy

[4] La Timone Hosp, AP HM, Neuropathol Lab, Fac Med Marseille, Marseille, France

[5] La Timone Hosp, AP HM, Med Genet Dept, Marseille, France

[6] Aix Marseille Univ, Marseille, France

[7] INSERM GMGF UMR S910, Marseille, France

[8] Univ Cote Azur, CNRS UMR 7284, INSERM U1081, Fac Med,Inst Res Canc & Aging Nice IRCAN, Nice, France

[9] Univ Nice Sophia Antipolis, CHU Nice, Univ Hosp Federat FHU OncoAge, Nice, France

[10] Hop Caremeau, CHU Nimes, Med Genet & Cytogenet, Nimes, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 08期

关键词：

18p deletion syndrome; facioscapulohumeral muscular dystrophy type 2; hypomethylation; inflammatory; MRI; muscle biopsy; SMCHD1; FSHD; D4Z4;

D O I：

10.1002/ajmg.a.38843

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length. FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18). Both FSHD types require permissive polyadenylation signal (4qA) downstream of the D4Z4 array.

引用

页码：1760 / 1763

页数：4

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