A case of paternally inherited congenital myotonic dystrophy.

Nakagawa, Masanori; Yamada, Hironao; Higuchi, Itsuro; Kaminishi, Yoshio; Miki, Tetsuro; Johnson, Keith; Osame, Mitsuhiro

doi:10.1136/jmg.31.5.397

Cited by 37 publications

(15 citation statements)

References 14 publications

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“…In general, the most severe congenital form of DM1 is associated with female transmission, 8,9 although a few cases of paternally transmitted CDM1 have been reported. [26][27][28][29] It seems reasonable to assume that the other men previously identified as transmitting CDM1 also contained similar large expansions in their sperm. We currently do not know why the expanded allele in this subset of DM1 males should be prone to such large expansions.…”

Section: Male Germline Instability In Myotonic Dystrophymentioning

confidence: 99%

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

et al. 2000

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The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK. Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline tissues. Intergenerational differences usually reveal an increase in allele length, concordant with the clinical anticipation characteristic of DM1, but there have also been cases with intergenerational contractions of the repeat length, accompanied by apparent anticipation. In order to gain a better understanding of this intergenerational behaviour, we have obtained semen samples from six DM males and used single molecule analyses to compare the allele distributions present in their sperm and blood with those of their offspring. We have confirmed that the male germline mutational pathway is distinct from that of the soma, but the extent of variation is highly variable from one individual to another and not obviously correlated with progenitor allele length. Nonetheless, in all cases the alleles present in the father's sperm overlap with those observed in their offspring. These data also provide further indications that the interpretation of intergenerational transmissions by standard analyses is frequently compromised by the masking of germline differences by age-dependent somatic expansion in the parent.

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Section: Male Germline Instability In Myotonic Dystrophymentioning

confidence: 99%

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

et al. 2000

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“…Se caracteriza por una debilidad muscular progresiva, miotonía, cataratas y desór-denes endocrinos. Existen tres subtipos de enfermedad: de debut tardío (enfermedad leve), de debut en la edad adulta o forma clásica (moderada a grave) y congénita (muy grave) (10).…”

Section: Discussionunclassified

Enfermedad de Steinert y embarazo: caso clínico

Iacoponi

Cuerva

et al. 2011

Rev. chil. obstet. ginecol.

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RESUMENLa enfermedad de Steinert es una enfermedad genética que se hereda con un patrón autosómico dominante, resultado de la expansión de la repetición de trinucleótidos CTG gen en el cromosoma 19, que codifica una proteína quinasa. Es una forma grave de distrofia muscular caracterizada por debilidad generalizada y degeneración muscular. El debut puede ocurrir en cualquier momento desde el nacimiento hasta la edad madura. Las complicaciones durante el embarazo son el aborto espontáneo, parto prematuro, el hidramnios, atonía uterina posparto, distocias intraparto y accidentes anestésicos. Presentamos el caso de una gestante de 37 años, asintomática con una anamnesis familiar sin patología de interés. Fue diagnosticada de diabetes gestacional y polihidramnios inespecífico en la semana 30 de embarazo. Acudió a nuestro centro en semana 35 de gestación por dinámica uterina y metrorragia. Se realizó una cesárea extrayéndose un feto masculino, con graves dificultades respiratorias y miotonía generalizada. Posteriormente, el neonato fue diagnosticado de enfermedad congénita de Steinert. El análisis genético de la madre reveló que ella padecía la misma enfermedad. El diagnóstico de enfermedad congénita de Steinert es muy difícil, sobretodo cuando los padres no son conscientes de la enfermedad. Nuestro objetivo es enfatizar en la importancia de una buena anamnesis y los marcadores que se pueden encontrar por ultrasonidos, como hidramnios, reducción del tono fetal y los movimientos activos, artrogriposis, micrognatia, que nos puede proporcionar al menos una sospecha prenatal. PALABRAS CLAVE: Enfermedad de Steinert, polihidramnios, distrofia miotónica, embarazo SUMMARYSteinert´s disease is a genetic condition, which is inherited in an autosomal dominant pattern, result from expansion of CTG trinucleotide repeat gene on chromosome 19, enconding a putative protein kinase. It is a severe form of muscular dystrophy marked by generalised weakness and muscular wasting. The onset can be any time from birth to middle age. The complications during pregnancy are miscarriage, premature labour, hydramnios, atonic postpartum hemorrhage, difficulties during delivery, anesthetic accidents. We report the case of a healthy 37 years old pregnant, with an ordinary family anamnesis. She was diagnosed of gestational diabetes and inespecific polyhydramnios during her 30 week of pregnancy. Due to labour contractions and metrorrhagia in the 35 week she came to our emergency department. She underwent a cesarean section delivery of a male baby, who suffered severe breathing difficulties and generalized myotonia. Afterwards, the baby was diagnosticated with Steinert´s congenital disease. Following genetic analysis of the mother revealed that she also suffers Steinert´s disease. The diagnosis of the congenital Steinert´s disease is really difficult, when the parents are unaware of the disease. Our objective is to emphasize in the REV CHIL OBSTET GINECOL 2011; 76(4): 257 -260

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“…An inverse correlation between repeat size and age of onset/severity [34, 371 of the disease has been observed. Anticipation and sex bias via maternal transmission (irrespective of premutation size), causing the congenital form of the disease, has been established in DM [30], with one exception, where the congenital form was inherited paternally [38]. Speculation of an imprinting mechanism has been dismissed, since the methylation status is not affected [39].…”

Section: Myotonic Dystrophymentioning

confidence: 99%

Trinucleotide repeat expansion and human disease

Hummerich

Lehrach

1995

Electrophoresis

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Trinucleotide repeat expansions have been identified as the underlying mutation in an increasing number of human genetic diseases, such as fragile site syndromes, myotonic dystrophy and several neurodegenerative disorders including Huntington's disease. By an unknown mechanism, polymorphic GC-rich triplet repeats expand in all these diseases. The expansions of a CCG repeat in fragile-site-associated disorders and the CTG repeat (in the 3'-untranslated region of the myotonin kinase gene) causing myotonic dystrophy are very large, whereas small expansions of CAG repeats have been identified in the open reading frame of genes in a number of neurological genetic disorders.

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A case of paternally inherited congenital myotonic dystrophy.

Cited by 37 publications

References 14 publications

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

Enfermedad de Steinert y embarazo: caso clínico

Trinucleotide repeat expansion and human disease

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