Duchenne Muscular Dystrophy in monozygotic twins: first follow up study worldwide
D
N.
Wijekoon1,
P
Ratnayake2,
C
R.
Karunarathne1,
K
G.
Kumari1,
B
L.
Gonawala1,
R
Angalena3,
A
Dalal3,
J
Nazarian4, 5,
E
Hoffman4, 5 and
K. Ranil
De Silva1*
-
1
University of Sri Jayewardenepura. , Genetic Diagnostic & Research Laboratory, Faculty of Medical Sciences, Sri Lanka
-
2
Lady Ridgeway Hospital, Lady Ridgeway Hospital, Sri Lanka
-
3
Center for DNA Fingerprinting and Diagnostics, Diagnostics Division, India
-
4
Children's National Medical Center, Research Center for Genetic Medicine, United States
-
5
George Washington University School of Medicine and Health Sciences, Department of Integrative Systems Biology, United States
Duchenne muscular dystrophy (DMD), is a rare incidence in monozygotic twins. We report, to the best of our knowledge the first follow up study worldwide on a genetically confirmed sporadic case of monozygotic twins with DMD along with career detection in two generations. Socio-demographic characteristics and clinical data were recorded through a standard questionnaire, and clinical assessment scales [Barthel Index (BI), Hammersmith motor ability score, North Star Ambulatory Assessment (NSAA), Vignos and Brook scales]. A follow-up was performed after 15 months. Mutation detection protocols included multiplex PCR (20 primers) followed by Multiple Ligation dependent Probe Amplification (MLPA) using SALSA MLPA Kit P034/P035. Zygosity confirmation was performed with 13 STR markers. Multiplex PCR revealed no deletion in the hotspot regions of the dystrophin gene. MLPA analysis confirmed dystrophin gene deletions in exons 61, 62 with no duplications. Carrier status of the mother and the sister of the twins were confirmed for exon 61, 62. Clinical scores at initial visit (Age 7yrs): Twin 1 [BI-55/100, Hammersmith-28/40, NSAA-8/34, Vignos scale-5/10, Brook scale-1/6] and Twin 2 [BI-60/100, Hammersmith-28/40, NSAA-7/34, Vignos-5/10, Brook scale-1/6]. Clinical scores at follow up (Age 8yrs): Twin 1 [BI-10/100, Hammersmith-4/40, NSAA-0/34, Vignos scale-9/10, Brook scale-5/6] and Twin 2 [BI-10/100, Hammersmith-5/40, NSAA-0/34, Vignos-9/10, Brook scale-5/6]. The higher rate of disease progression with different manifestations of the disease in the monozygotic twins may be due to environmental, genetic & epigenetic factors which shed a light on utilizing this unique sample to identify new disease modifying genes and protein biomarkers.
Keywords:
Mutation,
Twins,
epigenetic,
Duchenne muscular dystrophy,
Monozygotic
Conference:
14th Meeting of the Asian-Pacific Society for Neurochemistry, Kuala Lumpur, Malaysia, 27 Aug - 30 Aug, 2016.
Presentation Type:
Poster Presentation Session
Topic:
14th Meeting of the Asian-Pacific Society for Neurochemistry
Citation:
Wijekoon
DN,
Ratnayake
P,
Karunarathne
CR,
Kumari
KG,
Gonawala
BL,
Angalena
R,
Dalal
A,
Nazarian
J,
Hoffman
E and
De Silva
K
(2016). Duchenne Muscular Dystrophy in monozygotic twins: first follow up study worldwide.
Conference Abstract:
14th Meeting of the Asian-Pacific Society for Neurochemistry.
doi: 10.3389/conf.fncel.2016.36.00135
Copyright:
The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers.
They are made available through the Frontiers publishing platform as a service to conference organizers and presenters.
The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated.
Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed.
For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions.
Received:
04 Aug 2016;
Published Online:
11 Aug 2016.
*
Correspondence:
Prof. K. Ranil De Silva, University of Sri Jayewardenepura., Genetic Diagnostic & Research Laboratory, Faculty of Medical Sciences, Gangodawila, Nugegoda, Sri Lanka, ranil@sjp.ac.lk