ESPE2023 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
A Novel Stop Codon Mutation in Exon 6 (c.508A>T) of TRAPPC2 gene in a Patient with X-Linked Spondyloepiphyseal Dysplasia Tarda: A Case Report
Deniz Yaşar 1 , Naz Güleray Lafcı 2 , Gülin Karacan Küçükali 3 , Aslıhan Araslı Yılmaz 3 , Beyhan Özkaya Dönmez 3 , Burak Tahir Yazar 2 , Berna Uçan 4 , İclal Okur 3 , Behiye Sarıkaya Özdemir 3 , Erdal Kurnaz 3 , Melikşah Keskin 3,5 & Şenay Savaş Erdeve 3,5
1Etlik City Hospital, Department of Pediatrics, Ankara, Turkey. 2Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey. 3Etlik City Hospital, Department of Pediatric Endocrinology, Ankara, Turkey. 4Etlik City Hospital, Department of Radiology, Ankara, Turkey. 5University of Health Sciences, Ankara, Turkey
Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited disorder that is diagnosed in childhood or adolescence presents with disproportionate short stature and premature osteoarthritis with frequently affecting men. Here, we described a novel nonsense mutation, c.508A>T; p.Lys170Ter, in TRAPPC2 in a Turkish patient with X-linked SEDT. The patient is a 15-year-old boy from Turkish non-consanguineous parents, presented decreasing height velocity last three years and also the patient has complaint of back pain without any physical activity. He was born from 30 weeks, followed pregnancy, weighing 1900 grams with caesarean delivery. He was observed in neonatal intensive care unit during 20 days after birth and no history of entubation. His growth and development stages were compatible with age until the adolescent period. His maternal grandfather and aunt's son had short stature. The patient’s weight was 35 kg (sds:-3.85), height was 134 cm (sds:-5.44), father’s height was 169 cm and mother’s height was 155 cm therefore target height is 168.5 cm (sds:-1.25), bone age was 15 years old and prediction of adult height is 137.6 cm. Upper arm/lower arm proportion was 31/31 cm, upper- to lower-body segment ratio was 0.94 (65/69 cm), Sitting height/height ratio was 0.48 and tanner puberty stage was 5. Arm span was 144 cm and exceeded height by 10 cm, therefore the patient had not short upper extremities. He was noted the dysmorphic facial features: microtia, synophrys, hypotelorism, and barrel chest was observed to patient. Bone structure of the patient was appeared osteopenik when evaluate skeletal survey and hypoplastic odontoid process, platyspondyly with superior and inferior "humping" of the vertebra, narrow intervertebral disc spaces, scoliosis, short femoral necks, coxa vara and subchondral sclerotic changes were detected to the patient. When radiological, clinical signs and history of family was evaluated X-Linked SEDT was thought to the patient and genetic analysis was done. TRAPPC2 gene (NM_001128835.3, c.508A>T; p.Lys170Ter) in exon 6 with Sanger sequencing revealed a hemizygous novel stop codon mutation. It was detected the same mutation in the patient’s mother as heterozygous in the segregation study. In adolescent or childhood, disproportionate short stature, short trunk, osteoarthritis, exceed arm span from height and family history of appropriate for X-Linked should be though to us of X-Linked SEDT. Skeletal survey should be performed to suspect to SEDT and radiological findings may be supported to diagnosis.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more