Novel mutation of
            <i>TRPS1</i>
            in a patient with tricho‐rhino‐phalangeal syndrome

Li, S.; Chen, Z.; Yang, Yanling

doi:10.1111/ced.14430

Cited by 4 publications

(3 citation statements)

References 6 publications

(18 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several reports described an association between TRPS1 and different endocrine disturbances, such as idiopathic hypoglycemia, diabetes mellitus, and hypothyroidism (14). Three subtypes of TRPS have been described in the literature, including I, II, and III (10,22). This patient was most compatible with type I TRPS because symptoms were not so severe to be considered type III.…”

Section: Discussionmentioning

confidence: 79%

A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

et al. 2022

View full text Add to dashboard Cite

Introduction: Trichorhinophalangeal syndrome (TRPS) is a sporadic autosomal dominant disorder with approximately 200 reported cases worldwide. We aimed to report a 15-year-old girl with TRPS type 1 (TRPS1) and the second reported case with a rare non-ossifying fibroma (NOF) in the distal part of her left femur. Case Presentation: We introduce a 15-year-old girl who presented to the outpatient rheumatology clinic at 17 Shahrivar Children's Hospital, Rasht, Iran, with the chief complaint of osteoarticular pain and bone deformities. She had sparse hair, a recession of the fronto-temporal hairline, and unusually thick eyebrows at the medial and abnormal sparseness of the lateral margins. Physical examination of the limbs revealed short fingers and toes with proximal interphalangeal (PIP) ulnar deviation of the second and third fingers in both hands. Shortness of the fourth fingers, especially in the right hand, and the swelling of the PIP joints of both hands were prominent. Genetic analysis showed deletion mutation in the TRPS1 gene in chromosome 8q24 compatible with TRPS1. Conclusions: Several symptoms and signs, including distinctive craniofacial features and ectodermal and skeletal abnormalities, are used for proper TRPS diagnosis. A correct and on-time diagnosis is essential to perform supportive care for the patient to prevent morbidities. Bone lesions, such as NOF1, can also be presented in TRPS1 patients and may be correlated with TRPS1 mutation. Further investigations are required on the association of the TRPS gene with NOF bone lesions.

show abstract

Section: Discussionmentioning

confidence: 79%

A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Growth retardation is common and considered a progressive process in TRPS I [ 18 ]. Data demonstrate that TRPS has a broad spectrum with regard to brachydactyly and growth retardation caused by the premature closure of bone growth plates [ 3 ]. The abnormal, premature fusion and maturation of the epiphysis can also lead to growth retardation.…”

Section: Discussionmentioning

confidence: 99%

“…Many patients with TRPS may be undiagnosed, so unbiased population-based estimates of the prevalence of TRPS are not available. Based on clinical manifestations and genetic changes, it can be divided into three types, including TRPS type I (TRPS I; MIM 190350); TRPS type III (TRPS III; MIM 190351), which is due to TRPS1 gene variants; and TRPS2 (TRPS II; MIM 150230), which is a syndrome involving deletions of both TRPS1 and EXT1 genes [ 3 ]. TRPS I is a condition characterized by sparse hair and craniofacial and skeletal abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report

et al. 2022

View full text Add to dashboard Cite

Trichorhinophalangeal syndrome type I (TRPS I; MIM 190350) is a rare autosomal dominant disorder of congenital malformations due to variants of the gene TRPS1. We reported on an 11-year-old Chinese boy with TRPS I. He had typical clinical findings, including sparse hair, a bulbous nose, a long philtrum, a thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. Trio whole exome sequencing identified a likely pathogenic heterozygous variant c.1957C > T (p.Q653*) in exon 4 of TRPS1, which has not been previously reported. He had been treated with rhGH therapy at a dose of 0.34 mg/(kg/week) at age 11, and a follow-up was conducted for one year. The rhGH therapy led to an increase in growth with a mean growth velocity of 1.12 cm/month (+1.1 SDS/year), and insulin-like growth factor 1 (IGF-1) concentration increased within normal range in our case. Moreover, we summarize 12 cases with TRPS I, including TRPS1 gene variants, growth hormone (GH) axis evaluation, IGF-1 concentration, and treatment in each analyzed case. Eight cases with TRPS I show a good response to rhGH therapy, and five of them have elevated IGF-1. Classic GH deficiency is not common among patients with TRPS I. The presence or absence of GH deficiency is not an absolute criterion for determining whether rhGH therapy should be used in TRPS I. It proves that rhGH therapy improves height outcomes before puberty in TRPS I in the short term. Effects on final adult height will need a longer follow-up and more adult-height data. The rise in IGF-1 could correlate with an increase in short-term height. Measuring IGF-1 levels is recommended as part of the assessment during the follow-up of patients with TRPS I.

show abstract

Defect-engineered bilayer MOFs separator for high stability lithium-sulfur batteries

Yang

Wang³

et al. 2021

Journal of Alloys and Compounds

View full text Add to dashboard Cite

Novel mutation of TRPS1 in a patient with tricho‐rhino‐phalangeal syndrome

Cited by 4 publications

References 6 publications

A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report

Defect-engineered bilayer MOFs separator for high stability lithium-sulfur batteries

Contact Info

Product

Resources

About