Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report.
Taiwan J Obstet Gynecol
; 60(3): 530-533, 2021 May.
Article
en En
| MEDLINE
| ID: mdl-33966742
ABSTRACT
OBJECTIVE:
We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype-phenotype correlation. CASE REPORT A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect. The pregnancy was subsequently terminated, and whole exome sequencing revealed a novel homozygous splice site mutation in the PIGN gene c.963 G > A (p.Gln321Gln). The same variant was also detected by pedigree-based Sanger sequencing in both parents as heterozygous, while they had normal karyotypes.CONCLUSION:
Our case report enhances the phenotype-genotype correlation associated with homozygous loss of function mutations in the PIGN gene.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Fosfotransferasas
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Anomalías Múltiples
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ADN Recombinante
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Ultrasonografía Prenatal
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Mutación con Pérdida de Función
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Año:
2021
Tipo del documento:
Article