The gene for incontinentia pigmenti is assigned to Xq28

Sefïani, A.; Abel, Laurent; Heuertz, S.; Sinnett, Daniel; Lavergne, Léo; Labuda, Damian; Hors-Cayla, M C

doi:10.1016/0888-7543(89)90350-9

Cited by 103 publications

(34 citation statements)

References 11 publications

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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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“…Sefiani et al (1988a) and Harris et al (1988a) excluded IP2 from the pericentromeric region of the X, using a series of polymorphic DNA probes in 14 families with inherited IP. Continued linkage studies by Sefiani et al (1988b) have localized the IP2 gene to the distal long arm, Xq27-q28 (Zmax = 3.58 at 5 centimorgans for the IP2-DXS52 linkage).…”

mentioning

confidence: 99%

Report of the committee on the genetic constitution of the X chromosome

Mandel¹,

Willard²,

Nussbaum³

et al. 1988

Cytogenet Genome Res

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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 incontinentia pigmenti is assigned to Xq28

Cited by 103 publications

References 11 publications

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

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

Report of the committee on the genetic constitution of the X chromosome

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

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