A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of <i>JAG</i>1 gene c.439C&gt;T

LIU Song; CHENG Rui

doi:10.16766/j.cnki.issn.1674-4152.003570

Volume 22 Issue 6

Jun. 2024

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LIU Song, CHENG Rui. A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of JAG1 gene c.439C>T[J]. Chinese Journal of General Practice, 2024, 22(6): 1077-1080. doi: 10.16766/j.cnki.issn.1674-4152.003570

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LIU Song, CHENG Rui. A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of JAG1 gene c.439C>T[J]. Chinese Journal of General Practice, 2024, 22(6): 1077-1080. doi: 10.16766/j.cnki.issn.1674-4152.003570

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A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of JAG1 gene c.439C>T

doi: 10.16766/j.cnki.issn.1674-4152.003570

LIU Song
, CHENG Rui^,

Medical Center of Neonatology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China

Funds:

82171705

Received Date: 2023-11-11
Available Online: 2024-07-22

Abstract

Abstract

To explore the clinical and genetic characteristics of a newborn suspected of Alagille syndrome. The clinical data and peripheral blood DNA of the newborn were collected. The target gene capture technology was used to detect related gene mutations, and the source of mutations was verified by Sanger sequencing. The main clinical manifestations of this newborn were cholestasis, congenital heart disease, and butterfly vertebra. Gene sequencing showed that a spontaneous heterozygous mutation named c.439C>T (p.Q147X) occurred in the JAG1 gene. This nonsense mutation leads to premature termination of the peptide chain synthesis encoding JAG1 protein. According to American College of Medical Genetics and Genomics (ACMG) guidelines, the variant was determined to be pathogenic (PVS1+PS2+PS4+PM2_Supporting). The newborn was diagnosed with type Ⅰ Alagille syndrome caused by a mutation in the JAG1 gene. This provides a reference basis for later diagnosis and treatment or genetic counseling.
- JAG1 gene,
- Alagille syndrome,
- Newborn

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References(18)

References

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A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of JAG1 gene c.439C>T

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A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of JAG1 gene c.439C>T

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