Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11

Koiffmann, Célia Priszkulnik; Souza, Deise Helena de; Diament, Aron Judka; Ventura, Heloisa B.; Alves, Rosana; Kihara, S; Wajntal, Anita

doi:10.1002/ajmg.1320460514

Cited by 43 publications

(13 citation statements)

References 13 publications

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“…X chromosome abnormalities (mosaicism and/or structural rearrangements) have been found in 60% of the cases of HMI (Koiffman et al 1993). A locus for one form of pigmentary dyscrasia (described as IPl in the literature) has been provisionally mapped to Xpl 1, based on multiple reports of patients with X-autosome translocations with similar breakpoints at Xpll (Koiffman et al 1993).…”

Section: Discussionmentioning

confidence: 99%

“…A locus for one form of pigmentary dyscrasia (described as IPl in the literature) has been provisionally mapped to Xpl 1, based on multiple reports of patients with X-autosome translocations with similar breakpoints at Xpll (Koiffman et al 1993).…”

Section: Discussionmentioning

confidence: 99%

“…Many different mosaic chromosomal abnormalities have been reported associated with this condition; this has lead some authors to hypothesize that HMI is a manifestation of chromosome mosaicism (Donnai et al 1988). One form of HMI has been mapped to Xpll based on multiple reports of patients with X-autosome translocations with breakpoints clustered in Xp 11 (Koiffman et al 1993).…”

Section: Introductionmentioning

confidence: 99%

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Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

et al. 1995

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We report a patient with mental retardation, behavioral disturbances, and pigmentary anomalies, consistent with the phenotype of hypomelanosis of Ito (HMI), and in whom cytogenetic analysis revealed mosaicism for an unbalanced translocation. His karyotype is 45, XY,-7,-15,+der(7)(7:15)t(q34:q13)/46,XY. He is therefore monosomic for 7q34 to qter and 15pter to q13 in the cells containing the translocation. The human homolog (P) of the p gene (the product of the mouse pink-eyed dilution locus) maps to 15q11q13. Loss of this locus is believed to be associated with abnormalities of pigmentation, such as the hypopigmentation seen in patients with deletions of 15q11q13, and the Prader-Willi and Angelman syndromes. Mutations within the P gene have also been associated with tyrosinase-positive (type II) oculocutaneous albinism. Using fluorescence in situ hybridization, we confirmed that our patient is deleted for one copy of a P gene probe in the cells with the unbalanced translocation, and for loci within the region critical for the Prader-Willi/Angelman syndromes. Although hypomelanosis of Ito is a heterogeneous disorder, we postulate that, in our case and potentially in others, this phenotype may result directly from the loss of specific pigmentation genes.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

et al. 1995

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“…Besides various autosomal regions, Xp11 is rather frequently involved in phenotypes that should be categorized as hypomelanosis of Ito [Hodgson et al, 1985;Cannizzaro and Hecht 1987;Koiffmann et al, 1993;Hatchwell, 1996;Hatchwell et al, 1996]. It is important to realize that in cases of pigmentary mosaicism involving Xp11, the skin lesions are never preceded by an inflammatory stage as observed in incontinentia pigmenti.…”

Section: To the Editormentioning

confidence: 97%

Incontinentia pigmenti versus hypomelanosis of Ito: The whys and wherefores of a confusing issue

Happle

1998

Am. J. Med. Genet.

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“…Mosaic functional disomy of X specific sequences by the presence of a balanced, constitutional X;autosome translocation may produce a familial pattern of pigmentary dysplasia in affected females [Koiffmann et al, 1993;Hatchwell, 1996]. This mechanism may also explain the familial case reported by Grosshans et al [1971] and Sacrez et al [1970].…”

Section: Discussionmentioning

confidence: 89%

Pigmentary mosaicism of the hyperpigmented type in two half‐brothers

et al. 2002

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Pigmentary mosaicism is a heterogeneous cutaneous phenotype that is often associated with extracutaneous anomalies. It is widely accepted that these phenotypes arise de novo as a result of a postzygotic mutation, leading to a mosaic status of the embryo. In the vast majority of cases, the occurrence of pigmentary mosaicism is sporadic. We report two paternal half-brothers affected with pigmentary mosaicism of the hyperpigmented type. The hyperpigmentation in both patients is distributed along the lines of Blaschko. In addition, mental retardation, facial asymmetry, short stature, scoliosis, and short fingers with clinodactyly of the 5th digit were noted in one of them. Chromosome analysis in this 15-year-old patient demonstrated a mosaic 46,XY,dup(3)(p21.3;pter)/46,XY with 12% aberrant cells in lymphocytes and 2% in skin fibroblasts derived from a hyperpigmented area. His nine-year-old half-brother had similar systematized hyperpigmented skin lesions, macrocephaly, facial asymmetry, and clinodactyly of the 5th digit. Chromosome analysis of peripheral lymphocytes showed a normal karyotype 46,XY. A skin biopsy could not be obtained. So far, some familial cases of hypopigmentation along the lines of Blaschko have been reported, but familial occurrence of the hyperpigmented type of pigmentary mosaicism appears to be extremely unusual. It is difficult to establish a causal relationship with the chromosomal mosaicism as observed in patient 1. Paradominant transmission seems unlikely because this would likewise imply that the chromosomal mosaicism is an incidental finding.

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Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11

Cited by 43 publications

References 13 publications

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Incontinentia pigmenti versus hypomelanosis of Ito: The whys and wherefores of a confusing issue

Pigmentary mosaicism of the hyperpigmented type in two half‐brothers

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