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Pregled bibliografske jedinice broj: 374970

De Novo NEMO Gene Deletion (Delta 4-10) - A Cause of Incontinentia Pigmenti in a Female Infant: A Case Report


Čulić, Vida; Gabrić, Dragana; Puizina-Ivić, Neira; Rozman, Katja; Peterlin, Borut; Pavelić, Jasminka
De Novo NEMO Gene Deletion (Delta 4-10) - A Cause of Incontinentia Pigmenti in a Female Infant: A Case Report // Collegium Antropologicum, 32 (2008), 4; 1259-1262 (međunarodna recenzija, članak, znanstveni)


Naslov
De Novo NEMO Gene Deletion (Delta 4-10) - A Cause of Incontinentia Pigmenti in a Female Infant: A Case Report

Autori
Čulić, Vida ; Gabrić, Dragana ; Puizina-Ivić, Neira ; Rozman, Katja ; Peterlin, Borut ; Pavelić, Jasminka

Izvornik
Collegium Antropologicum (0350-6134) 32 (2008), 4; 1259-1262

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Incontinentipa pigmenti; NEMO gene; mutation; female infant; Croatia

Sažetak
Incontinentia pigmenti (IP) is a rare, inherited, multisystem genodermatosis. It is transmitted as an X-linked dominant trait. The disorder is a consequence of mutations in the NEMO gene (Xq28) that completely abolish expression of the NF-kappaB essential modulator. Here we present a female infant of healthy nonconsanguinous, young parents with a clinically evident first phase of IP PCR analysis of patient's peripheral blood lymphocytes DNA was done for detection of NEMO Delta 4-10 deletion. Skin changes present at birth appertain to first inflammatory stage. However, a pathohistological feature of the skin biopsy showed second phase of disease. Genetic testing of diseased child revealed Delta 4-10 in NEMO gene. However, the assumption that the female child has familial IP was rejected as PCR performed on the mothers leukocytes did not record the presence of the same mutation. Moreover, the existence of a healthy male infant of the same mother as well as the lack of any phenotypic signs of the disease in other family members additionally support that IP was not inherited, but it was a consequence of de novo NEMO gene mutation. In conclusion, here we describe a Croatian female with clinical IP phenotype having de novo genomic rearrangements in the NEMO gene.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
065-0000000-0424 - Cijeljenje koštanog defekta nakon imedijatne implantacije (Davor Katanec, )
098-0982464-2394 - Gensko liječenje tumora djelovanjem na molekule imunološkog sustava (Jasminka Pavelić, )

Ustanove
Stomatološki fakultet, Zagreb,
KBC Split

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Social Science Citation Index (SSCI)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Uključenost u ostale bibliografske baze podataka:


  • Abstracts in Anthropology
  • IBSS - The International Bibliography of the Social Sciences
  • International Bibliography of the Social Sciences (IBSS)
  • MEDLINE
  • Sociological Abstracts
  • Scopus
  • INIST/CNRS
  • UnCover
  • Science Culture SARL