http://www.cnr.it/ontology/cnr/individuo/prodotto/ID26477
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (Articolo in rivista)
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- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (Articolo in rivista) (literal)
- Anno
- 2001-01-01T00:00:00+01:00 (literal)
- Alternative label
Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, et al. (2001)
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
in American journal of human genetics
(literal)
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- Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, et al. (literal)
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- [ 1 ] Univ Cambridge, Addenbrookes Hosp, Dept Med, Cambridge CB2 2XY, England
Organization-Enhanced Name(s)
University of Cambridge
[ 2 ] Cambridge Inst Med Res, Cambridge, England
Organization-Enhanced Name(s)
University of Cambridge
[ 3 ] Bristol Eye Hosp, Bristol BS1 2LX, Avon, England
Organization-Enhanced Name(s)
University of Bristol
[ 4 ] St Michaels Hosp, Bristol, Avon, England
[ 5 ] Univ Cambridge, Addenbrookes Hosp, Dept Mol Genet, Cambridge CB2 2XY, England
Organization-Enhanced Name(s)
University of Cambridge
[ 6 ] Univ Verona, Mother & Child Dept, Sect Biol & Genet, I-37100 Verona, Italy
Organization-Enhanced Name(s)
University of Verona
[ 7 ] Univ Verona, Mother & Child Dept, Sect Pediat, I-37100 Verona, Italy
Organization-Enhanced Name(s)
University of Verona
[ 8 ] CNR, Int Inst Genet & Biophys, I-80125 Naples, Italy
Organization-Enhanced Name(s)
Consiglio Nazionale delle Ricerche (CNR)
[ 9 ] Hop Necker Enfants, INSERM, U393, Dept Genet,Unite Rech handicaps Genet Enfant, Paris, France
[ 10 ] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Organization-Enhanced Name(s)
Baylor College of Medicine
[ 11 ] Baylor Coll Med, Dept Dermatol, Houston, TX 77030 USA
Organization-Enhanced Name(s)
Baylor College of Medicine
[ 12 ] Baylor Coll Med, Cullen Eye Inst, Houston, TX 77030 USA
Organization-Enhanced Name(s)
Baylor College of Medicine
[ 13 ] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA (literal)
- Titolo
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (literal)
- Abstract
- Incontinentia pigmenti (IP), or \"Bloch-Sulzberger syndrome,\" is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting for >80% of new mutations. Male fetuses inheriting this mutation and other \"null\" mutations of NEMO usually die in utero. Less deleterious mutations can result in survival of males subjects, but with ectodermal dysplasia and immunodeficiency. Male patients with skin, dental, and ocular abnormalities typical of those seen in female patients with IP (without immunodeficiency) are rare. We investigated four male patients with clinical hallmarks of IP. All four were found to carry the deletion normally associated with male lethality in utero. Survival in one patient is explained by a 47,XXY karyotype and skewed X inactivation. Three other patients possess a normal 46,XY karyotype. We demonstrate that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation. Therefore, the repeat-mediated rearrangement leading to the common deletion does not require meiotic division. Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation. (literal)
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