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  3. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
 

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

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BORIS DOI
10.7892/boris.79346
Date of Publication
May 2015
Publication Type
Article
Division/Institute

Universitätsklinik fü...

Author
Maas, Saskia M
Shaw, Adam C
Bikker, Hennie
Lüdecke, Hermann-Josef
van der Tuin, Karin
Badura-Stronka, Magdalena
Belligni, Elga
Biamino, Elisa
Bonati, Maria Teresa
Carvalho, Daniel R
Cobben, JanMaarten
de Man, Stella A
Den Hollander, Nicolette S
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
Universitätsklinik für Kinderheilkunde
Departement Klinische Forschung, Forschungsgruppe Humangenetik
Silengo, Margharita
Simon, Marleen
Steichen, Elisabeth
Stumpel, Connie
Szakszon, Katalin
Polonkai, Edit
van den Ende, Jenneke
van der Steen, Antony
van Essen, Ton
van Haeringen, Arie
van Hagen, Johanna M
Verheij, Joke B G M
Mannens, Marcel M
Hennekam, Raoul C
Subject(s)

600 - Technology::610...

Series
European journal of medical genetics
ISSN or ISBN (if monograph)
1878-0849
Publisher
Elsevier
Language
English
Publisher DOI
10.1016/j.ejmg.2015.03.002
PubMed ID
25792522
Uncontrolled Keywords

EXT1

Genotype

Langer-Giedion syndro...

Multiple exostoses

Natural history

Phenotype

RAD21

Review

TRPS

TRPS1

Tricho-rhino-phalange...

Description
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.
Handle
https://boris-portal.unibe.ch/handle/20.500.12422/140103
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1-s2.0-S1769721215000592-main.pdftextAdobe PDF4.38 MBpublisherpublished restricted
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