The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

Smahi, Asma; Hydén-Granskog, Christel; Peterlin, Borut; Vabres, P.; Heuertz, S.; Mc, Fulchignoni-Lataud; Dahl, Niklas; Labrune, Philippe; B, Le Marec; Piussan, C

doi:10.1093/hmg/3.2.273

Cited by 63 publications

(28 citation statements)

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“…The disease, in general, is transmitted from mother to daughter, but some cases of mother to son (Hecht et al 1982) and father to daughter (Sommer and Liu 1984) have also been reported. A large genetic linkage analysis of a series of familial IP excluded the locus in Xp11 and mapped the gene to the distal part of Xq28 (Sefiani et al 1989;Smahi et al 1994;Jouet et al 1997). Although the gene responsible for IP2 has not been isolated to date, transcriptional analysis of the candidate region in Xq28 has identified a large number of genes (Rogner et al 1996).…”

Section: Cytogenetic and Linkage Studiesmentioning

confidence: 99%

Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

Shastry

2000

J Hum Genet

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Incontinentia pigmenti (IP) is a rare disorder which affects organs and tissues of ectodermal and mesodermal origin. It is characterized by swirled patterns of hyperpigmentation. In some cases, the condition is also associated with malformations of the teeth, nails, skeleton, hair, eyes, and the central nervous system. The disorder is inherited as an X-linked dominant trait and mostly affects females. However, there have been several cases of IP in males that survived to birth. While IP in females could be caused by a skewed pattern of X-inactivation, three mechanisms: namely, the half-chromatid hypothesis, unstable premutation, and a higher rate of de-novo germline mutations, have been proposed to explain the survival of affected male patients. Cytogenetic studies in several sporadic cases with signs similar to IP exhibited an X/autosomal translocation involving a breakpoint at Xp11, suggesting a gene locus on Xp11 (IP1). Linkage analysis of familial IP, on the other hand, has identified a second locus, in the Xq28 region (IP2). Molecular genetic analysis of two candidate genes located at Xp11 and Xq28, as well as the human homologue of the murine Str gene, failed to reveal any disease-causing mutations. Although heterozygous female mice deficient for the IKKγ / NEMO gene exhibited dermatopathy similar to that in human IP, studies of the gene in human IP have not yet been available. In an effort to isolate the genes causing IP, cosmid clones containing the translocation breakpoint located at Xp11 and the transcriptional map of the Xq28 region were constructed. These maps could be invaluable tools in the identification of genes in the near future.

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Section: Cytogenetic and Linkage Studiesmentioning

confidence: 99%

Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

Shastry

2000

J Hum Genet

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“…The disease is transmitted in an Xlinked dominant way [13,15,16]. IP type 1 was mapped to Xp11.21 and is usually lethal in males (early abortions) but is described in males with XXY Klinefelter's syndrome [2].…”

Section: Inheritance and Geneticsmentioning

confidence: 99%

“…Retinal detachment usually occurs in very early childhood, thus leading to a secondary strabismus and retrolental mass formation [9][10][11][12]. The risk of older children to develop retinal detachment is small, as the course of the disease generally subsides [8,12,16]. In cases of pigmentary abnormalities one should perform routine examinations every 6 months combined with annual fluorescein angiographies.…”

Section: Classical Stages Of Skin Alterations In Ipmentioning

confidence: 99%

Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Käsmann‐Kellner

Jurin-Bunte²,

Ruprecht³

1998

Ophthalmologica

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Background: Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90%), skeletal (40%), central nervous (40%) and ocular (35%) abnormalities. The pathogenesis is not yet known. The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. Patient Presentation: We present a 9-year-old girl with the classical general and ocular signs of IP. She presented in early childhood with inflammatory vesicular skin changes which changed into pigmented skin alterations especially on the trunk. Ocular findings were microphthalmia and retrolental mass formation in one eye and retinal pigmentary changes in the other. In our patient, the spontaneous mutation may have been caused by the family’s close neighbourhood to Semipalatinsk, Kasachstan, where regular nuclear tests took place very shortly before the pregnancy with our patient began. Discussion: Ocular involvement is described in about a third of persons affected with IP. A nearly consistent and pathognomonic finding is a pigment retinopathy (mottled diffuse hypopigmentations). A further consistent finding are abnormalities of peripheral retinal vessels with areas of non-perfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus). Exudative retinal detachment occurs only in a minority, usually in very early childhood, when the skin lesions are exudative as well. IP patients should, however, be clinically observed regularly because of their retinal pigmentary changes.

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“…16 Genetics IP exhibits an X-linked pattern of transmission and the gene has recently been mapped to the Xq28 locus. 17,18 Subsequently, the gene encoding nuclear factor kappa b (NF-kb) essential modulator (NEMO), also known as the g-subunit of the inhibitor kb (IKKg), has also been mapped to Xq28. 19 Mutations in the NEMO/IKKg gene, which maps in close proximity to the factor VIII locus, result in the IP phenotype.…”

Section: Dermatologymentioning

confidence: 99%

Unusual Neonatal Presentation of Incontinentia Pigmenti with Persistent Pulmonary Hypertension of the Newborn: A Case Report

et al. 2005

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Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a multisystem disorder with classical changing skin lesions. The other systems that are involved include the central nervous system, eye, hair, teeth, musculoskeletal system and, occasionally, the cardiovascular system. We report a neonate with a diagnosis of incontinentia pigmenti who presented at birth with pulmonary hypertension. This presentation has not been described in the literature.

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The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

Cited by 63 publications

References 0 publications

Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Unusual Neonatal Presentation of Incontinentia Pigmenti with Persistent Pulmonary Hypertension of the Newborn: A Case Report

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