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001-es BibID:	BIBFORM058577
Első szerző:	Maas, Saskia M.
Cím:	Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome / Saskia M. Maas, Adam C. Shaw, Hennie Bikker, Hermann-Josef Lüdecke, Karin van der Tuin, Magdalena Badura-Stronka, Elga Belligni, Maria Teresa Bonati, Daniel R. Carvalho, JanMaarten Cobben, Stella A. de Man, Nicolette S. Den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos-Bielenska, Anneke Maat-Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian B. Ousager, Jacek Pilch, Astrid Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie Stumpel, Katalin Szakszon, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joke B.G.M. Verheij, Marcel M. Mannens, Raoul C. Hennekam
Dátum:	2015
ISSN:	1769-7212
Megjegyzések:	Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype - phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted. Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked. Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban tricho-rhino-phalangeal syndrome TRPS Langer-Giedion syndrome TRPS1 multiple exostoses EXT1 RAD21 natural history genotype phenotype review
Megjelenés:	European Journal Of Medical Genetics. - 58 : 5 (2015), p. 279-292. -
További szerzők:	Shaw, C. A. Bikker, Hennie Lüdecke, Hermann-Josef Tuin, Karin van der Badura-Stronka, Magdalena Belligni, Elga Bonati, Maria Teresa Carvalho, Daniel R. Cobben, JanMaarten Man, Stella A. de Hollander, Nicolette S. Den Di Donato, Nataliya Garavelli, Livia Grønborg, Sabine Herkert, Johanna C. Hoogeboom, A. Jeannette M. Jamsheer, Aleksander Latos-Bielenska, Anna Maat-Kievit, Anneke Magnani, Cinzia Marcelis, Carlo Mathijssen, Inge B. Nielsen, Maartje Otten, Ellen Ousager, Lilian B. Pilch, Jacek Plomp, Astrid Poke, Gemma Poluha, Anna Posmyk, Renata Rieubland, Claudine Silengo, Margharita Simon, Marleen Steichen, Elisabeth Stumpel, Connie Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Ende, Jenneke van den Steen, Antony van der Essen, Ton van Haeringen, Arie van Hagen, Johanna M. van Verheij, Joke B.G.M. Mannens, Marcel M. Hennekam, Raoul C.
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