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A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
J Genet Med 2018;15:97-101
Published online December 31, 2018;  https://doi.org/10.5734/JGM.2018.15.2.97
© 2018 Korean Society of Medical Genetics and Genomics.

Jin-Mo Park1, Yun Jeong Lee2, and Jin-Sung Park3,*

1Department of Neurology, Dongguk University College of Medicine, Gyeongju, Korea
2Department of Pediatric Neurology, Kyungpook National University Hospital, Daegu, Korea
3Department of Neurology, School of Medicine, Kyungpook National University Chilgok Hospital, Daegu, Korea
Jin-Sung Park, M.D. http://orcid.org/0000-0001-5506-9206
Department of Neurology, School of Medicine, Kyungpook National University Chilgok Hospital, 807 Hoguk-ro, Buk-gu, Daegu 41404, Korea.
Tel: +82-53-200-2753, Fax: +82-53-200-2029, E-mail: neurojspark@gmail.com
Received May 18, 2018; Revised June 25, 2018; Accepted June 26, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.
Keywords : Trichorhinophalangeal syndrome, Genes, Phenotype


December 2018, 15 (2)
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