scholarly journals Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 137
Author(s):  
Tatyana Markova ◽  
Vladimir Kenis ◽  
Evgeniy Melchenko ◽  
Darya Osipova ◽  
Tatyana Nagornova ◽  
...  

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

2011 ◽  
Vol 8 (2) ◽  
pp. 125-129 ◽  
Author(s):  
Jin Lee ◽  
Chang Woo Jung ◽  
Gu-Hwan Kim ◽  
Beom Hee Lee ◽  
Jin-Ho Choi ◽  
...  

Eye ◽  
2005 ◽  
Vol 20 (6) ◽  
pp. 743-745 ◽  
Author(s):  
S Yoshida ◽  
Y Yamaji ◽  
R Kuwahara ◽  
A Yoshida ◽  
T Hisatomi ◽  
...  

2013 ◽  
Vol 10 (9) ◽  
pp. 1250-1258 ◽  
Author(s):  
Ali Al Kaissi ◽  
Farid Ben Chehida ◽  
Rudolf Ganger ◽  
Vladimir Kenis ◽  
Shahin Zandieh ◽  
...  

2003 ◽  
Vol 112 (6) ◽  
pp. 525-530 ◽  
Author(s):  
Ronald J. E. Pennings ◽  
August F. Deutman ◽  
Randall R. Fields ◽  
William J. Kimberling ◽  
Patrick L. M. Huygen ◽  
...  

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.


2004 ◽  
Vol 68 (12) ◽  
pp. 1573-1580 ◽  
Author(s):  
Laura W.J. Baijens ◽  
Els M.R. De Leenheer ◽  
Henriëtte H. Weekamp ◽  
Johannes R.M. Cruysberg ◽  
Geert R. Mortier ◽  
...  

2021 ◽  
pp. 112067212110356
Author(s):  
Ahmad Baiyasi ◽  
Joshua Barbosa ◽  
Anthony Parendo ◽  
Xihui Lin

Purpose: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1. Observations: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype. Conclusions: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.


2021 ◽  
pp. 105566562110285
Author(s):  
Sarut Chaisrisawadisuk ◽  
Mark H Moore

Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.


Diagnostics ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1596
Author(s):  
Antimo Moretti ◽  
Francesca Gimigliano ◽  
Marco Paoletta ◽  
Matteo Bertone ◽  
Sara Liguori ◽  
...  

Complex regional pain syndrome type I (CRPS I)—or algodystrophy—is a rare disease that usually occurs after a traumatic event. It is characterized by typical clinical findings such as severe and disabling pain disproportionate to the injury, functional limitations, as well as sensory and vasomotor alterations. However, some people do not report any injury associated with algodystrophy onset in personal history. We describe the management of an unusual case of CRPS I which occurred during the long-term follow-up of percutaneous transluminal coronary angioplasty (PTCA) and performed a narrative review of algodystrophy in non-orthopedic surgery. A clinical case of a 44-year-old man with a spontaneous onset of CRPS I of the right ankle is presented. He did not refer to history of any memorable significant trigger event. Approximately 5 months before the onset of clinical manifestations, he received a PTCA via the right femoral approach. We suppose an association between CRPS and this procedure and propose a possible pathophysiologic mechanism. The patient was treated with intramuscular neridronate, which resulted in significant pain relief and improved his quality of life. A comprehensive clinical and instrumental evaluation in patients with CRPS is challenging but mandatory for a correct diagnosis. An extensive analysis of patient history is important for identifying any potential trigger event, including non-orthopedic procedures. Bone scan could have a pivotal role for improving diagnostic sensitivity and specificity in CRPS I. Neridronate was a safe and effective therapeutic approach for this patient, confirming the results of the high-quality evidence available.


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