Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges

Chen, Huey‐Ling; Li, Huei-Ying; Wu, Jiafeng; Wu, Shang-Hsin; Hui-ling, Chen; Yang, Yun-Liang; Hsu, Yu-Hua; Liou, Bang‐Yu; Chang, Mei–Hwei; Ni, Yen‐Hsuan

doi:10.1016/j.jpeds.2018.09.028

Cited by 52 publications

(60 citation statements)

References 30 publications

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“…Suspecting PFIC, we analyzed both patients using target enrichment next‐generation sequencing for cholestasis‐associated genes, but with negative results . The DNA from the family was subjected to whole‐exome sequencing.…”

Section: Case Descriptionmentioning

confidence: 99%

“…Shang-Hsin Wu, 1 Jacob Shujui Hsu, [2][3][4] Hui-Ling Chen, 5 Mu-Ming Chien, 6 Jia-Feng Wu, 6 Yen-Hsuan Ni, 5,6 Bang-Yu Liou, 6 Ming-Chih Ho, 7 Yung-Ming Jeng, 8 Mei-Hwei Chang, 1,5,6 Pei-Lung Chen, 2,9,10 and Huey-Ling Chen 5,6,11 N eonates and infants are susceptible to cholestatic liver diseases. At least six genes are causative for progressive familial intrahepatic cholestasis (PFIC), and more genetic defects are known to cause infant cholestasis.…”

Section: Plectin Mutations In Progressive Familial Intrahepatic Cholementioning

confidence: 99%

“…(1) Approximately one-third of patients with PFIC do not have mutations in these genes. (2) The cytoskeleton linker plectin (PLEC) was recently found to protect the liver from cholestatic injuries in a liver-specific PLEC knockout (Plec Δalb ) mouse model. (3) However, the PLEC mutation has not been reported in human PFIC patients.…”

Section: Plectin Mutations In Progressive Familial Intrahepatic Cholementioning

confidence: 99%

“…Suspecting PFIC, we analyzed both patients using target enrichment next-generation sequencing for cholestasis-associated genes, but with negative results. (2) The DNA from the family was subjected to whole-exome sequencing. We discovered that both patients had compound heterozygous mutations of the PLEC (NM_000445) gene-c.2558A>G (p.D853G) and c.6179C>T (p.A2060V)-which were inherited from the parents ( Fig.…”

Section: Case Descriptionmentioning

confidence: 99%

“…At least six genes are causative for progressive familial intrahepatic cholestasis (PFIC), and more genetic defects are known to cause infant cholestasis . Approximately one‐third of patients with PFIC do not have mutations in these genes . The cytoskeleton linker plectin (PLEC) was recently found to protect the liver from cholestatic injuries in a liver‐specific PLEC knockout ( Plec Δalb ) mouse model .…”

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Plectin Mutations in Progressive Familial Intrahepatic Cholestasis

Hsu

Chen

et al. 2019

Hepatology

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Section: Case Descriptionmentioning

confidence: 99%

Section: Plectin Mutations In Progressive Familial Intrahepatic Cholementioning

confidence: 99%

Section: Plectin Mutations In Progressive Familial Intrahepatic Cholementioning

confidence: 99%

Section: Case Descriptionmentioning

confidence: 99%

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confidence: 99%

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Plectin Mutations in Progressive Familial Intrahepatic Cholestasis

Hsu

Chen

et al. 2019

Hepatology

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NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review

Yang,

Tsai,

Chou

et al. 2024

Clinical Case Reports

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Farnesoid X receptor (FXR) is a nuclear bile acid receptor encoded by the NR1H4 gene, a vital regulator of bile acid homeostasis. Pathogenic mutations of NR1H4 manifest as low gamma‐glutamyl transferase (GGT) cholestasis with rapid progression to liver failure, which is referred to as progressive familial intrahepatic cholestasis 5 (PFIC‐5). Herein, we present a case with rapid progressive cholestasis, liver failure in early infancy with the NR1H4 termination mutation.

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