Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis : from traditional technology to the NGS era
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue. Despite the recent application of NGS techniques in the clinical practice, the molecular diagnosis of FSHD is still performed with dated techniques such as Southern blotting. The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical protocols. Considering that clinical and molecular diagnosis of FSHD is challenging, it is not surprising that only few laboratories offer a comprehensive characterization of FSHD, which requires the education of professionals on traditional techniques even in the era of NGS. In conclusion, the study of FSHD provides an excellent example of using classical and modern molecular technologies which are equally necessary for the analysis of DNA repetitive traits associated with specific disorders.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2019 |
|---|---|
| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:20 |
|---|---|
| Enthalten in: |
Neurogenetics - 20(2019), 2 vom: 25. Mai, Seite 57-64 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Zampatti, Stefania [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 06.01.2020 Date Revised 09.03.2020 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1007/s10048-019-00575-4 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM295342692 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM295342692 | ||
| 003 | DE-627 | ||
| 005 | 20231225083444.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2019 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s10048-019-00575-4 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0984.xml |
| 035 | |a (DE-627)NLM295342692 | ||
| 035 | |a (NLM)30911870 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Zampatti, Stefania |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis |b from traditional technology to the NGS era |
| 264 | 1 | |c 2019 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 06.01.2020 | ||
| 500 | |a Date Revised 09.03.2020 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue. Despite the recent application of NGS techniques in the clinical practice, the molecular diagnosis of FSHD is still performed with dated techniques such as Southern blotting. The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical protocols. Considering that clinical and molecular diagnosis of FSHD is challenging, it is not surprising that only few laboratories offer a comprehensive characterization of FSHD, which requires the education of professionals on traditional techniques even in the era of NGS. In conclusion, the study of FSHD provides an excellent example of using classical and modern molecular technologies which are equally necessary for the analysis of DNA repetitive traits associated with specific disorders | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a D4Z4 contraction | |
| 650 | 4 | |a FSHD | |
| 650 | 4 | |a Genetic counseling | |
| 650 | 4 | |a Genetic test | |
| 650 | 4 | |a SMCHD1 | |
| 650 | 7 | |a Chromosomal Proteins, Non-Histone |2 NLM | |
| 650 | 7 | |a DUX4L1 protein, human |2 NLM | |
| 650 | 7 | |a Homeodomain Proteins |2 NLM | |
| 650 | 7 | |a SMCHD1 protein, human |2 NLM | |
| 700 | 1 | |a Colantoni, Luca |e verfasserin |4 aut | |
| 700 | 1 | |a Strafella, Claudia |e verfasserin |4 aut | |
| 700 | 1 | |a Galota, Rosaria Maria |e verfasserin |4 aut | |
| 700 | 1 | |a Caputo, Valerio |e verfasserin |4 aut | |
| 700 | 1 | |a Campoli, Giulia |e verfasserin |4 aut | |
| 700 | 1 | |a Pagliaroli, Giulia |e verfasserin |4 aut | |
| 700 | 1 | |a Carboni, Stefania |e verfasserin |4 aut | |
| 700 | 1 | |a Mela, Julia |e verfasserin |4 aut | |
| 700 | 1 | |a Peconi, Cristina |e verfasserin |4 aut | |
| 700 | 1 | |a Gambardella, Stefano |e verfasserin |4 aut | |
| 700 | 1 | |a Cascella, Raffaella |e verfasserin |4 aut | |
| 700 | 1 | |a Giardina, Emiliano |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Neurogenetics |d 1997 |g 20(2019), 2 vom: 25. Mai, Seite 57-64 |w (DE-627)NLM09649039X |x 1364-6753 |7 nnns |
| 773 | 1 | 8 | |g volume:20 |g year:2019 |g number:2 |g day:25 |g month:05 |g pages:57-64 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1007/s10048-019-00575-4 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 20 |j 2019 |e 2 |b 25 |c 05 |h 57-64 | ||