Whole-genome analysis of monozygotic twins discordant for type 1 narcolepsy

Narcolepsy type 1 (NT1) is a rare and chronic neurological disease characterized by sudden sleep attacks, overwhelming daytime drowsiness, and cataplexy. To contribute to the understanding of NT1 genetic causes, here we describe a whole-genome analysis of a monozygotic twin pair discordant for NT1. Our study revealed that although both twins have the same pathogenic mutations in NT1 associated genes (such as HLA-DQB1*06:02:01, HLA-DRB1*11:01:02/*15:03:01) the unaffected twin has mutations in genes outside the HLA loci that could be suppressing the NT1 phenotype. These results support the notion that NT1 has an immunological basis but that protective mutations in non-HLA might interfere with the clinical manifestation of the disease.

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On the Statistical Significance of one Pair of Monozygotic Twins in Clinical Genetics

Acta geneticae medicae et gemellologiae ◽

10.1017/s1120962300016012 ◽

1963 ◽

Vol 12 (4) ◽

pp. 317-323

Author(s):

L. Gedda

Keyword(s):

Twin Pair ◽

Statistical Significance ◽

Statistical Treatment ◽

Monozygotic Twins ◽

Monozygotic Twin ◽

Clinical Genetics ◽

Pair Comparison ◽

Monozygotic Twin Pair ◽

Development Result

SUMMARYA case of one twin pair concordant or discordant as to a given disease is always very important for Clinical Genetics, especially when it is monozygotic. In Clinical Genetics, isolated pairs occur to the physician, and the diagnosis must therefore be based on intra-pair comparison. The statistical treatment of the case must consider the fact that a concordant monozygotic twin pair represents a statistical universe rather than a statistical unit. This entails taking into account many traits concerning the time of onset, the symptoms, development, result of treatment, etc. Suggestions are made for the statistical treatment of such cases.

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Diskordanzursachen bei erbgleichen Zwillingen

Acta geneticae medicae et gemellologiae ◽

10.1017/s1120962300042402 ◽

1952 ◽

Vol 1 (1) ◽

pp. 89-102 ◽

Cited By ~ 2

Author(s):

Hans Grebe

Keyword(s):

Twin Pair ◽

Monozygotic Twins ◽

Monozygotic Twin ◽

Intrauterine Life ◽

Monozygotic Twin Pair ◽

Coloboma Of The Iris

This article discusses the major differences which can be fuond from time to time in homozygotic twins. In some instances there may be differences in manifestation, as in the case of a pair of monozygotic twins, aged 12, with concordant dysplasia of the hipjoint but with different radiological pictures. Differences may also be due to particular incidents during intrauterine life, alterations in growth resulting from hormonal disturbances etc. In some cases the cause of the differences is not known and, as an example, the author cites a monozygotic twin-pair aged 10, one member of which is much retarded in growth while the co-twin suffers from coloboma of the iris.

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Vascular Etiology of Disruptive Structural Defects in Monozygotic Twins

PEDIATRICS ◽

10.1542/peds.67.2.288 ◽

1981 ◽

Vol 67 (2) ◽

pp. 288-291

Author(s):

H. Eugene Hoyme ◽

Marilyn C. Higginbottom ◽

Kenneth L. Jones

Keyword(s):

Spinal Cord ◽

Twin Pair ◽

Monozygotic Twins ◽

Horseshoe Kidney ◽

Monozygotic Twin ◽

Recurrence Risk ◽

The Other ◽

Structural Defects ◽

Monozygotic Twin Pair ◽

Vascular Accidents

Two infants with structural defects previously undescribed in the survivor of a monozygotic twin pair are reported. One infant had hydranencephaly and a spinal cord transection, with an associated dead monozygotic co-twin of 24 weeks gestation; the other child had complete atresia of the colon and a horseshoe kidney, with a deceased co-twin of approximately six weeks gestation. These defects are presumed to be the result of in utero disruption of previously normally formed structures. They occur secondary to vascular exchange from a dead to a living monozygotic twin through placental vascular anastomoses. As illustrated by the two children described, the nature of the vascular defects seen in the survivor of a monozygotic twin pair depends on the time during gestation at which the co-twin dies. Recognition of the disruptive vascular etiology of the structural defects outlined in this report will allow for appropriate counseling with respect to the negligible recurrence risk for similar vascular accidents.

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Obsessive-Compulsive Disorder and Paraphilia in a Monozygotic Twin Pair

The British Journal of Psychiatry ◽

10.1192/bjp.161.5.694 ◽

1992 ◽

Vol 161 (5) ◽

pp. 694-698 ◽

Cited By ~ 14

Author(s):

Elizabeth M. J. Cryan ◽

Gerard J. Butcher ◽

Marcus G. T. Webb

Keyword(s):

Obsessive Compulsive Disorder ◽

Twin Pair ◽

Monozygotic Twins ◽

Monozygotic Twin ◽

Sexual History ◽

Obsessive Compulsive ◽

Compulsive Disorder ◽

Monozygotic Twin Pair

We report OCD and paraphilia in two male members of triplets (the two males being monozygotic twins), and discuss the possible aetiological factors for this previously unreported occurrence. We suggest that patients presenting with paraphilia should be examined for OCD and that a detailed sexual history should be obtained in all patients with OCD.

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Co-circulation of multiple subtypes of enterovirus A71 (EV- A71) genotype C, including novel recombinants characterised by use of whole genome sequencing (WGS), Denmark 2016

Eurosurveillance ◽

10.2807/1560-7917.es.2017.22.26.30565 ◽

2017 ◽

Vol 22 (26) ◽

Cited By ~ 10

Author(s):

Sofie E Midgley ◽

Astrid G Nielsen ◽

Ramona Trebbien ◽

Mille W. Poulsen ◽

Peter H Andersen ◽

...

Keyword(s):

Genome Sequencing ◽

Genome Analysis ◽

Neurological Disease ◽

Whole Genome ◽

Whole Genome Analysis ◽

Highly Pathogenic ◽

Enterovirus A71 ◽

Recent Emergence ◽

Sporadic Cases ◽

Genotype C

In Europe, enterovirus A71 (EV-A71) has primarily been associated with sporadic cases of neurological disease. The recent emergence of new genotypes and larger outbreaks with severely ill patients demonstrates a potential for the spread of new, highly pathogenic EV-A71 strains. Detection and characterisation of these new emerging EV variants is challenging as standard EV assays may not be adequate, necessitating the use of whole genome analysis.

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