Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

2014 ◽  
Vol 56 (4) ◽  
pp. e26-e29 ◽  
Author(s):  
Shinkai Inoue ◽  
Atsushi Ishii ◽  
Goro Shirotani ◽  
Makoto Tsutsumi ◽  
Eiji Ohta ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Desbuquois Dysplasia ◽  
Lethal Skeletal Dysplasia

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

2010 ◽  
Vol 152A (4) ◽  
pp. 966-969 ◽  
Author(s):  
Gareth Baynam ◽  
Cathy Kiraly-Borri ◽  
Jack Goldblatt ◽  
Jan E. Dickinson ◽  
Gareth P. Jevon ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Desbuquois Dysplasia ◽  
Lethal Skeletal Dysplasia

116 A Lethal Skeletal Dysplasia Resembling Desbuquois Dysplasia.

2006 ◽  
Vol 54 (1) ◽  
pp. S99.6-S100
Author(s):  
V. K. Agarwal ◽  
K. Bui ◽  
D. Salazar ◽  
R. S. Lachman ◽  
D. R. Witt ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Desbuquois Dysplasia ◽  
Lethal Skeletal Dysplasia

Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene

2019 ◽  
Vol 179 (12) ◽  
pp. 2490-2493 ◽  
Author(s):  
Katherine R. Forster ◽  
Jody E. Hooper ◽  
Karin J. Blakemore ◽  
Ahmet A. Baschat ◽  
Julie Hoover‐Fong
Keyword(s):  
Prenatal Diagnosis ◽  
Snp Array ◽  
High Density ◽  
Desbuquois Dysplasia

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Bone ◽  
2020 ◽  
Vol 141 ◽  
pp. 115601
Author(s):  
Meagan Collins ◽  
Valancy Miranda ◽  
Justine Rousseau ◽  
Lisa E. Kratz ◽  
Philippe M. Campeau
Keyword(s):  
Skeletal Dysplasia ◽  
Receptor Gene ◽  
Lamin B ◽  
Homozygous Variant ◽  
Lamin B Receptor ◽  
Lethal Skeletal Dysplasia

scholarly journals Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Hong-Dan Wang ◽  
Liang-Jie Guo ◽  
Zhan-Qi Feng ◽  
Da-Wei Zhang ◽  
Meng-Ting Zhang ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Cloning And Expression ◽  
Expression Vectors ◽  
Extracellular Secretion ◽  
Chinese Origin ◽  
Desbuquois Dysplasia ◽  
Pathogenic Change ◽  
First Time

Abstract Background Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but not for DBQD type 2. To our knowledge, all patients with DBQD type 1 currently found could be explained by mutations in the CANT1 gene, but mutations in the CANT1 gene might not be directly diagnosed as DBQD type 1. Results We have identified two novel CANT1 mutations (mut1: c.594G > A [p.Trp198*], mut2: c.734C > T [p.Pro245Leu]) in three children from a family of Chinese origin for the first time. Two of the three children could be diagnosed as typical DBQD type 1 and one child could not be diagnosed as DBQD type 1 based on the clinical data we had. To further clarify the effect of the two mutations of the CANT1 gene, we studied the CANT1 gene expression and detected the protein secretion and nucleotide enzyme activity through cDNA cloning and expression vectors construction for wild and mutant types. The mut1 was a nonsense mutation which could lead to premature termination and produced the truncated bodies; The CANT1 dimer of mut2 was significantly reduced and even undetectable. The extracellular secretion of mut1 was extremely high while mut2 was significantly reduced compared with the wild type. And mut1 and mut2 also could result in a significant reduction in the activity of CANT1 nucleotidease. From the results we could deduce that the two mutations of the CANT1 gene were the causes of the two cases in this study. Conclusions Regarding the particularity of the cases reported in this study, the pathogenesis of CANT1 might be more complicated. The genetic and phenotype of three children with the same genetic background need to be further studied. Larger cohort of patients was needed to establish genotype–phenotype correlations in DBQD.

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

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