Fatal cardiomyopathy and hepatic dysfunction with acute onset due to mitochondrial trifunctional protein deficiency diagnosed by whole exome sequencing

Gineco eu ◽  
2015 ◽  
Vol 11 (1) ◽  
pp. 8-11
Author(s):  
Bratila E.
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Hepatic Dysfunction ◽  
Acute Onset ◽  
Protein Deficiency ◽  
Whole Exome ◽  
Mitochondrial Trifunctional Protein ◽  
Fatal Cardiomyopathy

scholarly journals Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing

Neurology ◽  
2014 ◽  
Vol 82 (11) ◽  
pp. 963-968 ◽  
Author(s):  
M. A. Lines ◽  
R. Jobling ◽  
L. Brady ◽  
C. R. Marshall ◽  
S. W. Scherer ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Protein Deficiency ◽  
Bifunctional Protein ◽  
Whole Exome

scholarly journals Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Si Chen ◽  
Linrun Du ◽  
Yihui Lei ◽  
Yuanyuan Lin ◽  
Shangqin Chen ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Protein Deficiency ◽  
Paternal Allele ◽  
Bifunctional Protein ◽  
Hexacosanoic Acid ◽  
Whole Exome ◽  
Docosanoic Acid ◽  
The Right

Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different activities of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units, D-bifunctional protein defects can be divided into four types. The typical symptoms include hypotonia and seizures. The gene that encodes D-BP was HSD17B4, which is located in chromosome 5q23.1.Case Presentation: We report the first case of D-BPD in a Chinese patient with neonatal onset. Cosmetic malformations, severe hypotonia and seizures are prominent. The blood bile acid profile showed increased taurocholic acid, glycocholic acid, and taurochenodeoxycholic acid. Very-long-chain fatty acids (VLCFAs) revealed significant increases in hexacosanoic acid (C26:0), tetracosanoic acid/docosanoic acid (C24:0/C22:0), and hexacosanoic acid/docosanoic acid (C26:0/C22:0). Cranial MRI revealed bilateral hemispheric and callosal dysplasia, with schizencephaly in the right hemisphere. EEG showed loss of sleep–wake cycle and epileptiform discharge. Other examinations include abnormal brainstem auditory evoked potentials (BAEPs) and temporal pigmented spots on the optic disc in the right eye. After analysis by whole-exome sequencing, heterozygous c.972+1G>T in the paternal allele and c.727T>A (p.W243R) in the maternal allele were discovered. He was treated with respiratory support, formula nasogastric feeding, and antiepileptic therapy during hospitalization and died at home due to food refusal and respiratory failure at the age of 5 months.Conclusions: Whole-exome sequencing should be performed in time to confirm the diagnosis when the newborn presents hypotonia, seizures, and associated cosmetic malformations. There is still a lack of effective radical treatment. Supportive care is the main treatment, aiming at controlling symptoms of central nervous system like seizures and improving nutrition and growth. The disease has a poor outcome, and infants often die of respiratory failure within 2 years of age. In addition, heterozygous deletion variant c.972+1G>T and missense mutations c.727T>A (p.W243R) are newly discovered pathogenic variants that deserve further study.

Slowly progressive d -bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing

2017 ◽  
Vol 372 ◽  
pp. 6-10 ◽  
Author(s):  
Takashi Matsukawa ◽  
Kagari Mano Koshi ◽  
Jun Mitsui ◽  
Taro Bannai ◽  
Miho Kawabe ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Protein Deficiency ◽  
Bifunctional Protein ◽  
Whole Exome

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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