Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome
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-κB essential modulator ( NEMO),...
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| Published in | American journal of human genetics Vol. 69; no. 6; pp. 1210 - 1217 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chicago, IL
Elsevier Inc
01.12.2001
University of Chicago Press The American Society of Human Genetics |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 |
| DOI | 10.1086/324591 |
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| 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-κB 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. |
|---|---|
| AbstractList | 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-κB 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. 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.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. 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-κB 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. 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. |
| Author | D'Urso, M Rugolotto, S Bardaro, T Lyonnet, S Jakins, T Esposito, T Soli, F Mayer, E Greenhalgh, L Bonnefont, J P Shaffer, L G Aradhya, S Nelson, D L Whittaker, J Kashork, C D Shuttleworth, S G Levy, M Lewis, R A Kenwrick, S Turco, A Munnich, A Hamel-Teillac, D Smahi, A Woffendin, H |
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| Keywords | Chromosomal aberration Endocrinopathy Klinefelter syndrome Sex linked character Skin disease Relapse Prognosis Aneuploidy Male Supernumerary X chromosome Inactivation Essential Characterization Hair (head) Exon Gene Deletion Dominant character X-Chromosome Male genital diseases Human Hair Immunopathology Nervous system diseases Pigmentation disorder Incontinentia pigmenti Stomatology Dental disease Teeth Sexual differentiation disorder Recurrent Congenital disease In utero Survival Genetic disease Ectodermal dysplasia Eye disease Malformation Cytogenetics Abnormal chromosome Mosaicism Mutation Sweat gland disease |
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| Notes | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 Members of the consortium are as follows: United Kingdom—Susan Kenwrick, Hayley Woffendin, and Tracy Jakins (Cambridge Institute for Medical Research and University of Cambridge Department of Medicine, Addenbrooke's Hospital, Cambridge); S. Garry Shuttleworth and Eric Mayer (Bristol Eye Hospital, Bristol); Lynn Greenhalgh (Clinical Genetics, St. Michael’s Hospital, Bristol); and Joanne Whittaker (University of Cambridge Department of Molecular Genetics, Addenbrooke’s Hospital, Cambridge); Italy—Simone Rugolotto (Section of Pediatrics, Mother and Child Department, University of Verona, Verona; Tiziana Bardaro, Teresa Esposito, and Michele D'Urso (International Institute of Genetics and Biophysics, CNR, Naples); and Fiorenza Soli and Alberto Turco (Section of Biology and Genetics, Mother and Child Department, University of Verona, Verona); France—Asmae Smahi, Dominique Hamel-Teillac, Stanislas Lyonnet, Jean Paul Bonnefont, and Arnold Munnich (Department of Genetics, Unité de Recherches sur les Handicaps Genetiues de L’Enfant INSERMU-393, Hopital Necker-Enfants, Paris); and United States— Swaroop Aradhya, Catherine D. Kashork, Lisa G. Shaffer, and David L. Nelson (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston); Moise Levy (Department of Dermatology, Baylor College of Medicine, Houston); and Richard Alan Lewis (Departments of Molecular and Human Genetics and Ophthalmology, and Cullen Eye Institute, Baylor College of Medicine, Houston). |
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| Snippet | Incontinentia pigmenti (IP), or “Bloch-Sulzberger syndrome,” is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes;... Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes;... |
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| SubjectTerms | Alleles Biological and medical sciences Child Child, Preschool Dermatology Dosage Compensation, Genetic Female Genes, Lethal - genetics Humans I-kappa B Kinase Incontinentia Pigmenti - genetics Incontinentia Pigmenti - pathology Infant Infant, Newborn Karyotyping Klinefelter Syndrome - genetics Male Medical sciences Meiosis - genetics Mosaicism - genetics Pedigree Pigmentary diseases of the skin Polymerase Chain Reaction Protein Serine-Threonine Kinases - genetics Sequence Deletion - genetics Survival Rate |
| Title | Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome |
| URI | https://dx.doi.org/10.1086/324591 https://www.ncbi.nlm.nih.gov/pubmed/11673821 https://www.proquest.com/docview/72268629 https://pubmed.ncbi.nlm.nih.gov/PMC1235532 |
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