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001-es BibID:	BIBFORM046094
Első szerző:	Melegh Béla
Cím:	Phenotypic manifestations of the OCTN2 V295X mutation : sudden infant death and carnitine-responsive cardiomyopathy in Roma families / Melegh Béla, Bene Judit, Mogyorósy Gábor, Havasi Viktória, Komlósi Katalin, Pajor László, Oláh Éva, Kispál Gyula, Sumegi Balázs, Méhes Károly
Dátum:	2004
ISSN:	0148-7299 1096-8628
Megjegyzések:	In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter. Carnitine treatment resulted in dramatic improvement of the cardiac symptoms, echocardiographic, and EKG findings in both cases. Family investigations revealed four sudden deaths, two of them corresponded to the classic SIDS phenotype. In postmortem tissue specimens available from three of them we could verify the homozygous mutation. In liver tissue reserved from two patients lipid droplet vacuolization could be observed; the lipid vacuoles were located mainly in the peripherolobular regions of the acini. In the heart tissue signs of generalized hypertrophy and lipid vacuoles were seen predominantly in the subendocardial areas in both cases; some aggregates of smaller lipid vacuoles were separated, apparently by membranes. Review of all OCTN2 deficiency cases reported so far revealed that this is the first presentation of histopathology in classic familial sudden infant death syndrome (SIDS) with an established SLC22A5 mutation. In addition to the two affected homozygous cardiomyopathic children and three homozygous sudden death patients, the genetic analysis in 25 relatives showed 14 carriers. The mutant gene derived from five non-consanguineous grandparents, each of them having 6-14 brothers and sisters. This alone suggests a wide ancestral spread of the mutation in certain Roma subpopulations.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	American Journal of Medical Genetics Part A. - 131A : 2 (2004), p. 121-126. -
További szerzők:	Bene Judit Mogyorósy Gábor (1960-) (csecsemő- és gyermekgyógyász, gyermekkardiológus) Havasi Viktória Komlósi Katalin Pajor László (patológus) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus) Kispál Gyula Sumegi Balázs Méhes Károly
Pályázati támogatás:	T-32670 OTKA T-35026 OTKA
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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