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Pregled bibliografske jedinice broj: 453865

Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other


Dumić, Katja; Wilson, Robert; Thanasawat, Pavinee; Grubić, Zorana; Kušec, Vesna; Štingl, Katarina; New Iandolo, Maria
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other // European journal of pediatrics, 169 (2010), 7; 891-894 doi:10.1007/s00431-009-1110-1 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 453865 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other

Autori
Dumić, Katja ; Wilson, Robert ; Thanasawat, Pavinee ; Grubić, Zorana ; Kušec, Vesna ; Štingl, Katarina ; New Iandolo, Maria

Izvornik
European journal of pediatrics (0340-6199) 169 (2010), 7; 891-894

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

Ključne riječi
11-hydroxylase; congenital adrenal hyperplasia; mutation

Sažetak
Congenital adrenal hyperplasia (CAH) due to steroid 11-beta hydroxylase deficiency (11beta- OHD) is a rare genetic disorder of steroidogenesis transmitted as an autosomal recessive trait. We describe a new case of 11beta-OHD CAH caused by compound heterozygosity for a novel mutation in intron 7 and previously described mutation in exon 8 of CYP 11B1 gene. A 2.5-year-old boy of Croatian descent presented with accelerated growth and bone age, borderline hypertension, and pseudoprecocious puberty. Hormonal studies established diagnosis of 11beta-OHD: elevated plasma levels of 11- deoxycortisol, 17-hydroxyprogesterone, androstenedione and testosterone, low levels of cortisol and aldosterone, and suppressed plasma renin activity. Sequencing of the CYP11B1 gene identified compound heterozygous mutation consisting of a novel splicing mutation in intron 7 (IVS 7DS+4A to G) and R448H mutation in exon 8 previously reported mostly in Moroccan Jews. This is the first patient with CAH due to 11beta- OHD in Croatia (and Slavic population in general) in whom molecular diagnosis of CYP11B1 gene was performed.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Barišić, Ingeborg, MZOS ) ( POIROT)
108-0000000-0359 - Nasljedne endokrine bolesti u djece (Dumić, Miroslav, MZOS ) ( POIROT)
214-0000000-3354 - ISTRAŽIVANJA MIKROSATELITA UNUTAR REGIJE GLAVNOG SUSTAVA TKIVNE PODUDARNOSTI (Grubić, Zorana, MZOS ) ( POIROT)
214-1080229-0163 - Zajednička molekularna osnova etiopatogeneza koštanih poremećaja u ljudi (Kušec, Vesna, MZOS ) ( POIROT)

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta,
Klinički bolnički centar Zagreb

Poveznice na cjeloviti tekst rada:

doi springerlink.metapress.com www.springerlink.com

Citiraj ovu publikaciju:

Dumić, Katja; Wilson, Robert; Thanasawat, Pavinee; Grubić, Zorana; Kušec, Vesna; Štingl, Katarina; New Iandolo, Maria
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other // European journal of pediatrics, 169 (2010), 7; 891-894 doi:10.1007/s00431-009-1110-1 (međunarodna recenzija, članak, znanstveni)
Dumić, K., Wilson, R., Thanasawat, P., Grubić, Z., Kušec, V., Štingl, K. & New Iandolo, M. (2010) Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other. European journal of pediatrics, 169 (7), 891-894 doi:10.1007/s00431-009-1110-1.
@article{article, year = {2010}, pages = {891-894}, DOI = {10.1007/s00431-009-1110-1}, keywords = {11-hydroxylase, congenital adrenal hyperplasia, mutation}, journal = {European journal of pediatrics}, doi = {10.1007/s00431-009-1110-1}, volume = {169}, number = {7}, issn = {0340-6199}, title = {Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other}, keyword = {11-hydroxylase, congenital adrenal hyperplasia, mutation} }
@article{article, year = {2010}, pages = {891-894}, DOI = {10.1007/s00431-009-1110-1}, keywords = {11-hydroxylase, congenital adrenal hyperplasia, mutation}, journal = {European journal of pediatrics}, doi = {10.1007/s00431-009-1110-1}, volume = {169}, number = {7}, issn = {0340-6199}, title = {Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other}, keyword = {11-hydroxylase, congenital adrenal hyperplasia, mutation} }

Časopis indeksira:


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


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