Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene

González-Huerta, Luz María; Cuevas-Covarrubias, Sergio A.; Messina-Baas, Olga

doi:10.1016/j.jdermsci.2007.06.005

Cited by 6 publications

(7 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To date, more than 35 different mutations have been reported in the TRPS1 gene leading to TRPS I and TRPS III 1–7 . However, only missense mutations in exon 6 of the TRPS1 gene, which encodes a presumptive GATA DNA‐binding zinc‐finger domain of TRPS1 protein, are accounted for TRPS III 2,3 .…”

Section: Resultsmentioning

confidence: 99%

“…Several studies have implicated mutations in the TRPS1 gene at chromosome 8q24.1 1 as the underlying cause of TRPS I and TRPS III. Several deletions, nonsense and missense mutations causing TRPS I have been identified in the entire coding region of the TRPS1 gene 1–7 . Mutations causing TRPS III are located solely in exon 6 of the TRPS1 gene, 2,3 which affect the function of the zinc‐finger domain of TRPS1 protein.…”

mentioning

confidence: 99%

See 1 more Smart Citation

A novel missense mutation in theTRPS1gene underlies trichorhinophalangeal syndrome type III

Tariq

Ahmad

2008

British Journal of Dermatology

View full text Add to dashboard Cite

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

A novel missense mutation in theTRPS1gene underlies trichorhinophalangeal syndrome type III

Tariq

Ahmad

2008

British Journal of Dermatology

View full text Add to dashboard Cite

“…The first early descriptions are attributed to Klingmüller in 1956, and Van der Werff ten Bosh in 1959, but it was not until the year 1966 that An- Later, in 1969, Leonard Langer described affected individuals with similar characteristics, developmental delay, and multiple exostoses [10]. Three types of TRPS have been described in the literature (I, II, and III), all related to alterations in the TRPS1 gene [2][3][4][5]. Even when they all share the typical phenotype, TRPS I is characterized by a normal development and absence of exostoses, TRPS II or Langer-Giedon syndrome presents with exostoses and intellectual disability due to a contiguous gene deletion involving the EXT1 gene, and TRPS III presents with a marked growth impairment and brachydactyly [10].…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by a triad of trichologic, craniofacial, and musculoskeletal abnormalities [1]. Three types of TRPS have been described in the literature (I, II, and III) [2][3][4][5]. A defective TRPS1 gene is responsible of the typical features, such as a pear-shaped nose with bulbous tip, long philtrum, protruding ears, maxillary prognathism with mandibular hypoplasia, and sparse hair on both the scalp and the lateral third of the eyebrows [1,6].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

García-García

Herz‐Ruelas

Gómez‐Flores

et al. 2020

Skin Appendage Disord

View full text Add to dashboard Cite

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disease characterized by trichologic, craniofacial, and musculoskeletal abnormalities. Predominant clinical features include a pear-shaped nose with bulbous tip, long philtrum, protruding ears, and sparse hair on both the scalp and the lateral third of the eyebrows. Cone-shaped epiphyses are a common radiographic finding. Loose anagen syndrome (LAS) is a sporadic or autosomal dominant condition due to abnormalities in the hair’s anchoring mechanism. It mostly affects children, who usually have reduced hair length, as well as hair that is easily plucked without pain. Recent contributions regarding trichoscopic findings of LAS have been made, describing rectangular black granular structures as a typical feature. An association between TRPS and LAS has been mentioned by hair experts, but no reports documenting this have been published. This case demonstrates the co-existence of both conditions in a patient with characteristic phenotypic traits of TRPS and LAS.

show abstract

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

Gilman

Newman

Freeman

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome. The first patient has a novel heterozygous two-base-pair deletion of nucleotides at 3198-3199 (c.3198-3199delAT) in the TRPS1 gene causing a translational frameshift and subsequent alternate stop codon. The second patient has a 3.08 million base-pair interstitial deletion at 8q23.3 (113,735,487-116,818,578), which includes the TRPS1 gene and CSMD3. Our patients have characteristic craniofacial features, Legg-Perthes syndrome, various skeletal abnormalities including cone shaped epiphyses, anxiety (first patient), and intellectual disability, presenting unusual phenotypes that add to the clinical spectrum of the disease.

show abstract

Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene

Cited by 6 publications

References 7 publications

A novel missense mutation in theTRPS1gene underlies trichorhinophalangeal syndrome type III

A novel missense mutation in theTRPS1gene underlies trichorhinophalangeal syndrome type III

Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

Contact Info

Product

Resources

About