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001-es BibID:	BIBFORM077370
Első szerző:	Lessel, Davor
Cím:	Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations / Davor Lessel, Ayse Bilge Ozel, Susan E. Campbell, Abdelkrim Saadi, Martin F. Arlt, Keisha Melodi McSweeney, Vasilica Plaiasu, Katalin Szakszon, Anna Szőllős, Cristina Rusu, Armando J. Rojas, Jaime Lopez-Valdez, Holger Thiele, Peter Nürnberg, Deborah A. Nickerson, Michael J. Bamshad, Jun Z. Li, Christian Kubisch, Thomas W. Glover, Leslie B. Gordon
Dátum:	2018
ISSN:	0340-6717
Megjegyzések:	Juvenile segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ starting in childhood. Hutchinson?Gilford progeria syndrome (HGPS), caused by a recurrent de novo synonymous LMNA mutation resulting in aberrant splicing and generation of a mutant product called progerin, is a prototypical example of such disorders. Here, we performed a joint collaborative study using massively parallel sequencing and targeted Sanger sequencing, aimed at delineating the underlying genetic cause of 14 previously undiagnosed, clinically heterogeneous, non-LMNA-associated juvenile progeroid patients. The molecular diagnosis was achieved in 11 of 14 cases (~ 79%). Furthermore, we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann?Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes. We additionally expand the clinical spectrum associated with PYCR1 mutations by showing that they can somewhat resemble HGPS in the first year of life. Moreover, our results lead to clinical reclassification in one single case. Our data emphasize the complex genetic and clinical heterogeneity underlying progeroid disorders.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Juvenile segmental progeroid syndrome Hutchinson?Gilford progeria syndrome Wiedemann?Rautenstrauch progeroid syndrome POLR3A PYCR1
Megjelenés:	Human Genetics. - 137 : 11-12 (2018), p. 921-939. -
További szerzők:	Ozel, Ayse Bilge Campbell, Susan E. Saadi, Abdelkrim Arlt, Martin F. McSweeney, Keisha Melodi Plaiasu, Vasilica Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Szőllős Anna Rusu, Cristina Rojas, Armando J. Lopez-Valdez, Jaime Thiele, Holger Nürnberg, Peter Nickerson, Deborah A. Bamshad, Michael J. Li, Jun Z. Kubisch, Christian Glover, Thomas W. Gordon, Leslie B.
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