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45 Possible Causes for Mutations in the TRPS1 Gene, Short Stature - 5th-10th Percentile

  • Trichorhinophalangeal Syndrome

    Mutation analysis showed a missense mutation (R952C) in exon 7 of the TRPS1 gene.[ncbi.nlm.nih.gov] Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C T (p. Gln400X) and c.2086C T (p.[ncbi.nlm.nih.gov] TRPS I is caused by mutations in the TRPS1 gene.[ghr.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Trichorhinophalangeal Dysplasia Type 1

    Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. Br J Dermatol. 163 , 416-9.[e-kjgm.org] At four years old, her weight was in 5th, height in 10th, and head circumference in 75th percentiles.[ijponline.biomedcentral.com] This syndrome is caused by autosomal dominant mutations in the TRPS1 gene.[nature.com]

  • Trichorhinophalangeal Syndrome Type 1 and 3

    TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12. TRPS3 is inherited in an autosomal dominant manner.[diseaseinfosearch.org] At four years old, her weight was in 5th, height in 10th, and head circumference in 75th percentiles.[ijponline.biomedcentral.com] New genetic approaches, including mutation analysis, now allow identification of carriers of the TRPS1 gene mutations.[jamanetwork.com]

  • Growth Hormone Deficiency

    Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C T (p. Gln400X) and c.2086C T (p.[ncbi.nlm.nih.gov] Upon genetic analysis of the TRPS1 gene, two mutations were found.[ncbi.nlm.nih.gov] TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI.[ncbi.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Growth Retardation

    All patients have a point mutation in the TRPS1 gene.[ncbi.nlm.nih.gov]

    Missing: Short Stature - 5th-10th Percentile
  • Carrington Syndrome

    New genetic approaches, including mutation analysis, now allow identification of carriers of the TRPS1 gene mutations.[jamanetwork.com] Molecular genetic testing can reveal mutations of the TRPS1 gene.[rarediseases.org] In addition to the 2 mutations described herein, a total of 33 mutations were identified throughout the TRPS1 gene.[jamanetwork.com]

    Missing: Short Stature - 5th-10th Percentile
  • Skeletal Dysplasia

    Finally, Merjaneh et al. [ 97 ] report a TRPS1 a family with a novel nonsense mutation in the TRPS1 gene.[intechopen.com] […] failuring response to r-hGH treatment, whereas Stagi et al. [ 95 ] and Sarafoglou et al. [ 96 ] reported that GH treatment was effective in improving height velocity in 4 TRPS1[intechopen.com]

    Missing: Short Stature - 5th-10th Percentile
  • Subependymoma

    TRPS1 gene.[springermedizin.de] Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12.[springermedizin.de] Rossi A, Devirgiliis V, Panasiti V, Borroni RG, Carlesimo M, Gentile M, Cariola F, Calvieri S (2007) Missense mutation in exon 7 of TRPS1 gene in an Italian family with a[springermedizin.de]

    Missing: Short Stature - 5th-10th Percentile
  • Erythropoietic Protoporphyria

    The condition is caused by mutations in the TRPS1 gene.[mdedge.com]

    Missing: Short Stature - 5th-10th Percentile
  • Carcinomatous Polyarthritis

    Three subtypes have been described: TRPS I, caused by mutations in TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS[science.gov]

    Missing: Short Stature - 5th-10th Percentile

Further symptoms