ALMES, Marion; SPRAUL, Anne; RUIZ, Mathias; GIRARD, Muriel; ROQUELAURE, Bertrand; LABORDE, Nolwenn; GOTTRAND, Frederic; TURQUET, Anne; LAMIREAU, Thierry; DABADIE, Alain; BONNETON, Marjorie; THEBAUT, Alice; ROHMER, Babara; LACAILLE, Florence; BROUE, Pierre; FABRE, Alexandre; MENTION-MULLIEZ, Karine; BOULIGAND, Jerome; JACQUEMIN, Emmanuel; GONZALES, Emmanuel

doi:10.3390/diagnostics12051169

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Diagnostics. 2022-05-07, vol. 12, n° 5

Résumé en anglais

BACKGROUND: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to evaluate the use of NGS in children with cholestasis. METHODS: Children presenting cholestasis were included between 2015 and 2020. Molecular sequencing was performed by targeted capture of a panel of 34 genes involved in cholestasis and jaundice. Patients were classified into three categories: certain diagnosis; suggested diagnosis (when genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number); uncertain diagnosis (when clinical and para-clinical findings were not consistent enough with molecular findings). RESULTS: A certain diagnosis was established in 169 patients among the 602 included (28.1%). Molecular studies led to a suggested diagnosis in 40 patients (6.6%) and to an uncertain diagnosis in 21 patients (3.5%). In 372 children (61.7%), no molecular defect was identified. CONCLUSIONS: NGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations.< Réduire

Mots clés en anglais

Genetic cholestasis

Children

NGS

Neonatal sclerosing cholangitis

PFIC

Alagille syndrome

Transient neonatal cholestasis

URI

https://oskar-bordeaux.fr/handle/20.500.12278/140270

DOI

http://dx.doi.org/10.3390/diagnostics12051169

Unités de recherche

Bordeaux Population Health Research Center (BPH) - UMR 1219

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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

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Résumé en anglais

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