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

European Journal of Medical Genetics
Saskia M MaasRaoul C Hennekam

Abstract

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 epiphys...Continue Reading

References

Apr 1, 1990·Clinical Pediatrics·M PulB Komsuoglu
Aug 1, 1986·American Journal of Medical Genetics·N Niikawa, T Kamei
Feb 15, 1993·American Journal of Medical Genetics·F E MarchauJ E Dumon
Jul 9, 1999·American Journal of Medical Genetics·C A Stevens, C A Moore
Dec 12, 2000·American Journal of Human Genetics·H J LüdeckeB Horsthemke
Sep 1, 1951·A.M.A. American Journal of Diseases of Children·D P R KEIZER, J H SCHILDER
Oct 26, 2005·Journal of the American Academy of Dermatology·Mario VaccaroAlfredo Blandino
May 15, 2008·American Journal of Medical Genetics. Part a·Jacqueline McBrienSally Ann Lynch
Sep 18, 2009·The Journal of Biological Chemistry·Denise M PiscopoRik Derynck
Sep 29, 2011·American Journal of Medical Genetics. Part a·Daniel Rocha CarvalhoCarlos Eduardo Speck-Martins
Feb 9, 2012·American Journal of Medical Genetics. Part a·Nina PerezaBorut Peterlin
Aug 6, 2013·American Journal of Medical Genetics. Part a·Albert SchinzelAndres Giedion
Jun 13, 2015·Case Reports in Immunology·M M G VollebregtJ E van der Werff Ten Bosch

❮ Previous
Next ❯

Citations

Nov 19, 2015·European Journal of Endocrinology·Jan M WitSarina G Kant
May 3, 2016·American Journal of Medical Genetics. Part a·Christine M ArmourKym M Boycott
Jun 3, 2016·American Journal of Medical Genetics. Part a·Mark Lubinsky, Piranit Nik Kantaputra
Jun 4, 2016·Genesis : the Journal of Genetics and Development·Ahmed G NomirMakoto Abe
Sep 2, 2016·Wiley Interdisciplinary Reviews. Developmental Biology·Joanna SmeetonJ Gage Crump
Oct 6, 2016·American Journal of Medical Genetics. Part a·Worawan KunotaiPiranit Nik Kantaputra
Nov 9, 2016·Clinica Chimica Acta; International Journal of Clinical Chemistry·Roman SolcKaterina Hirschfeldova
Apr 11, 2017·Acta Odontologica Scandinavica·Doo Hwan BaeJi Hun Kim
Mar 4, 2017·American Journal of Medical Genetics. Part a·Jordana L GilmanVirginia E Kimonis
Jan 13, 2018·Frontiers in Genetics·Amina KamarFadi Bitar
Jul 7, 2018·Expert Review of Clinical Pharmacology·Anwar Baban, Marco Castori
May 22, 2017·Journal of Neuro-oncology·Sascha B FischerKarl Heinimann
Nov 22, 2018·Italian Journal of Pediatrics·Giulia TrippellaStefano Stagi
Dec 26, 2018·Case Reports in Pediatrics·Corina Ramona NicolescuLéon Rausin
Mar 21, 2020·Human Genetics·Lianne C KrabRaoul C Hennekam
Apr 12, 2020·Journal of Medical Genetics·Aniek L van WijngaardenNina Ajmone Marsan
Jun 22, 2021·International Journal of Dermatology·Rogério Nabor KondoRegina C Betz
Jul 14, 2020·Skin Appendage Disorders·Sandra Cecilia García-GarcíaAlejandra Villarreal-Martinez

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.