Cutaneous mosaicisms: concepts, patterns and classifications

Kouzak, Samara Silva; Mendes, Marcela Sena Teixeira; Costa, Izelda Maria Carvalho

doi:10.1590/abd1806-4841.20132015

Cited by 38 publications

(50 citation statements)

References 25 publications

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“…Mutasyonlu hücrelerin embriyogenez sırasında göç ettiği bölgelerde deri lezyonları görülecektir. 3,7 Otozomal dominant (OD) kalıtılan hastalık-larda görülen mozaisizm tipidir. 1 1. .…”

Section: G Ge En No Om MI Ik K (unclassified

“…Café au lait lekesi, becker nevüs, porto şarap lekesi bu paternin örneklerindendir. 3,6 T Ti ip p 3 3: : F Fi il ll lo oi id d p pa at te er rn n: : Yaprak şeklindeki lezyonlar görülmektedir (Resim 3). En tipik örneği mental retardasyon, korpus kollozum agenezisi, işitme kaybı ve kas-iskelet sistemi anomalilerinin eşlik ettiği filloid hipomelanozistir.…”

unclassified

“…En tipik örneği mental retardasyon, korpus kollozum agenezisi, işitme kaybı ve kas-iskelet sistemi anomalilerinin eşlik ettiği filloid hipomelanozistir. 3,6 T Ti ip p 4 4: : O Or rt ta a h ha at t s se ep pe er ra as sy yo on nu u o ol lm ma ad da an n y ya am ma a p pa a--t te er rn ni i: : Orta hat ayrımı olmadan görülen yama paternidir (Resim 4). Dev konjenital melanositik nevüs en tipik örneğidir.…”

unclassified

“…Dev konjenital melanositik nevüs en tipik örneğidir. 3,6 T Ti ip p 5 5: : L La at te er ra al li iz za as sy yo on n p pa at te er rn ni i: : Orta hattı geç-meyen, tek tarafta sınırlı kalan yama paternidir (Resim 5). Örnek olarak, CHILD sendromu verilebilir.…”

unclassified

“…Örnek olarak, CHILD sendromu verilebilir. 3,6 Mozaik fenotipler, altta yatan genetik mekanizmaya göre iki ana gruba ayrılabilir. 5 1) Genomik (somatik) mozaisizm: X inaktivasyonu sonucu oluşabilmektedir.…”

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Cutaneous Mosaicism and Dermatoses with Mosaic Pattern: Review

Orenay¹,

Tamer²,

Sarıfakıoğlu³

2016

Turkiye Klinikleri J Dermatol

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Section: G Ge En No Om MI Ik K (unclassified

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Cutaneous Mosaicism and Dermatoses with Mosaic Pattern: Review

Orenay¹,

Tamer²,

Sarıfakıoğlu³

2016

Turkiye Klinikleri J Dermatol

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Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis

Zhang,

He,

et al. 2024

Pediatric Investigation

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ImportancePostzygotic mutations in the GNAQ/GNA11 genes, which encode the G‐protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population.ObjectiveTo identify pathogenic mutations in pediatric patients with PPV within the Chinese population.MethodsWe performed whole‐exome sequencing (WES) using skin lesion tissues from pediatric patients diagnosed with PPV. Additionally, ultradeep‐targeted sequencing was conducted to validate the somatic mutations. A genotype‐phenotype correlation was analyzed by integrating data from previous reports with the findings of the present study.ResultsThirteen patients were enrolled, all diagnosed with the cesioflammea type of PPV, except for one patient with an unclassifiable type. We identified somatic GNA11 c.547C>T (p.R183C) variant in seven patients and GNAQ c.548G>A (p.R183Q) in four patients, with low allelic fractions ranging from 2.1% to 8.6% through ultradeep sequencing. Besides, a GNAQ c.548G>A (p.R183Q) variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via WES. The genotype‐phenotype correlation analysis, involving 15 patients with a GNA11 variant and 10 with a GNAQ variant, revealed that facial capillary malformation (87% vs. 50%, P = 0.075) and ocular melanocytosis (80% vs. 40%, P = 0.087) appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ mutations. All four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 variant.InterpretationOur study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11, thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.

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