Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata

2003 ◽  
Vol 23 (9) ◽  
pp. 701-704 ◽  
Author(s):  
N. V. Whittock ◽  
L. Izatt ◽  
S. L. Simpson-Dent ◽  
K. Becker ◽  
S. H. Wakelin
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata

Prenatal diagnosis of rhizomelic chondrodysplasia punctata

1988 ◽  
Vol 8 (8) ◽  
pp. 571-576 ◽  
Author(s):  
S. Hoefler ◽  
G. Hoefler ◽  
A. B. Moser ◽  
P. A. Watkins ◽  
W. W. Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

scholarly journals Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

2021 ◽  
Vol 12 ◽  
Author(s):  
Li Zhang ◽  
Haoran Hu ◽  
Desheng Liang ◽  
Zhuo Li ◽  
Lingqian Wu
Keyword(s):  
Prenatal Diagnosis ◽  
Missense Mutation ◽  
Novel Mutation ◽  
Rare Condition ◽  
Bioinformatic Analysis ◽  
Functional Study ◽  
Chondrodysplasia Punctata ◽  
Enzymatic Assays ◽  
Whole Exome ◽  
Function Loss

X-Linked recessive chondrodysplasia punctata (CDPX1) is a rare skeletal dysplasia characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia. CDPX1 is caused by function loss of arylsulfatase E (ARSE, also known as ARSL). Pathogenic mutations in ARSE are responsible for CDPX1 in newborns or adults; however, studies have not fully explored prenatal cases. In the current study, a novel missense mutation (c.265A > G) in ARSE was identified in a fetus with short limbs using whole-exome sequencing (WES). Bioinformatic analysis showed that the variant was pathogenic, and RT-qPCR, Western blot, and enzymatic assays were performed to further explore pathogenicity of the variant. The findings showed that the variant decreased transcription and protein expression levels and led to loss of enzymatic activity of the protein. The novel mutation c.265A > G in ARSE was thus the genetic cause for the phenotype presented by the fetus. The current study presents a prenatal case in Chinese population using functional analysis of ARSE, which helps the family to predict recurrence risks for future pregnancies and provides more information for understanding this rare condition. The findings show that WES is a feasible method for prenatal diagnosis of fetuses with CDPX1.

Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report

2009 ◽  
Vol 34 (6) ◽  
pp. 724-726 ◽  
Author(s):  
A. Benaicha ◽  
M. Dommergues ◽  
J. M. Jouannic ◽  
A. Jacquette ◽  
M. Alexandre ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata

Brachytelephalangic Chondrodysplasia Punctata: Prenatal Diagnosis and Postnatal Outcome

2010 ◽  
Vol 28 (3) ◽  
pp. 186-190 ◽  
Author(s):  
S. Boulet ◽  
K. Dieterich ◽  
M. Althuser ◽  
F. Nugues ◽  
C. Durand ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Postnatal Outcome

scholarly journals Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata

2018 ◽  
Vol 48 (7) ◽  
pp. 979-991 ◽  
Author(s):  
Anna R. Blask ◽  
Eva I. Rubio ◽  
Kimberly A. Chapman ◽  
Anne K. Lawrence ◽  
Dorothy I. Bulas
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Important Marker

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings

2006 ◽  
Vol 26 (13) ◽  
pp. 1235-1240 ◽  
Author(s):  
Shalini Umranikar ◽  
Phyllis Glanc ◽  
Sheila Unger ◽  
Sarah Keating ◽  
Katherine Fong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Autopsy Findings

Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings

2009 ◽  
Vol 30 (2) ◽  
pp. 162-164 ◽  
Author(s):  
P. J. G. Zwijnenburg ◽  
K. L. Deurloo ◽  
H. R. Waterham ◽  
E. J. Meijers-Heijboer ◽  
J. M. G. van Vugt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chondrodysplasia Punctata ◽  
Second Trimester ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Ultrasound Findings
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