Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review

Chavany, Julie; Cano, Aline; Roquelaure, Bertrand; Bourgeois, P.; Boubnova, Julia; Gaignard, Pauline; Hoebeke, Célia; Reynaud, Rachel; Rhomer, B.; Slama, Abdelhamid; Badens, Catherine; Chabrol, B.; Fabre, Alexandre

doi:10.1016/j.arcped.2020.01.003

Cited by 20 publications

(40 citation statements)

References 26 publications

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“…Since MIS‐C is a very rare complication of COVID‐19, the probability of a child with liver transplant developing MIS‐C should be extremely low. We present another case of MIS‐C in a liver transplant recipient, that of a 5‐year‐old boy of Comorian origin, with NBAS deficiency who received a reduced deceased donor transplant at the age of 2 years (previously reported in Chavany et al 2 ). He developed hepatic artery thrombosis postoperatively and EBV‐related lymphoproliferative disease, which resolved after immunosuppression was decreased.…”

Section: Figurementioning

confidence: 73%

A second case of multisystem inflammatory syndrome associated with SARS‐CoV‐2 in a liver‐transplanted child

Duvant¹,

Roquelaure²,

Morand

et al. 2021

Pediatric Transplantation

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Section: Figurementioning

confidence: 73%

A second case of multisystem inflammatory syndrome associated with SARS‐CoV‐2 in a liver‐transplanted child

Duvant¹,

Roquelaure²,

Morand

et al. 2021

Pediatric Transplantation

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“…Seven studies reporting 16 patients from 12 unrelated families were identified (Chavany et al, 2020; Lenz et al, 2018; Li et al, 2019; Schmidt et al, 2015; Shohet et al, 2019; Smith et al, 2017; Spagnoli, Frattini, Salerno, & Fusco, 2019). Demographics, clinical features, neuroimaging and genotypes of all patients are summarized Table S1.…”

Section: Resultsmentioning

confidence: 99%

“…Previously, one patient with SCYL1 disease underwent a liver transplant at 23 months of age (Lenz et al, 2018). The majority of the patients recovered spontaneously between liver failure episodes, as early as 2 weeks after the onset and the number of episodes of acute liver failure decreased over time (Chavany et al, 2020). The acute episodes of liver failure occurred up to 8.5 years in some of the patients (Lenz et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

“…This ubiquitous expression is in keeping with wide‐range organ involvement. Phenotypes range from autosomal recessive spinocerebellar ataxia to acute liver failure and neurodegeneration (Chavany et al, 2020; Lenz et al, 2018; Li, Gong, Knisely, Zhang, & Wang, 2019; Schmidt et al, 2015; Shohet et al, 2019). There have been less than 20 patients reported so far since its first description.…”

Section: Introductionmentioning

confidence: 99%

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SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1

McNiven

Gattini

Siddiqui

et al. 2021

American J of Med Genetics Pt A

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SCYL1 disease results from biallelic pathogenic variants in SCYL1. We report two new patients with severe hepatic phenotype requiring liver transplantation. Patient charts reviewed. DNA samples and skin fibroblasts were utilized. Literature was reviewed. 13‐year‐old boy and 9‐year‐old girl siblings had acute liver insufficiency and underwent living related donor liver transplantation in infancy with no genetic diagnosis. Both had tremor, global developmental delay, and cognitive dysfunction during their follow‐up in the medical genetic clinic for diagnostic investigations after their liver transplantation. Exome sequencing identified a likely pathogenic variant (c.399delC; p.Asn133Lysfs*136) in SCYL1. Deletion/duplication analysis of SCYL1 identified deletions of exons 7–8 in Patient 1. Both variants were confirmed in Patient 2 and the diagnosis of SCYL1 disease was confirmed in both patients at the age of 13 and 9 years, respectively. SCYL1 protein was not expressed in both patients' fibroblast using western blot analysis. Sixteen patients with SCYL1 disease reported in the literature. Liver phenotype (n = 16), neurological phenotype (n = 13) and skeletal phenotype (n = 11) were present. Both siblings required liver transplantation in infancy and had variable phenotypes. Exome sequencing may miss the diagnosis and phenotyping of patients can help to diagnose patients.

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“…Thus, allogeneic liver transplantation remains a feasible treatment option for recurrent acute liver failure in NMAD. Indeed, a recent case series by Chavany et al have also described two patients who had resolution of recurrent PALF following liver transplantation 23 . However, given the phenotypic variability of NBAS deficiency, liver transplantation must be assessed on a case‐by‐case basis.…”

Section: Discussionmentioning

confidence: 99%

Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation

Geem

Jiang

Rytting

et al. 2021

Pediatric Transplantation

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Background: Pediatric acute liver failure (PALF) remains an enigmatic process of rapid end-organ dysfunction associated with a variety of pathologic conditions though the predominant cause is indeterminate. A growing body of research has identified mutations in the NBAS gene to be associated with recurrent acute liver failure and multi-systemic disease including short stature, skeletal dysplasia, facial dysmorphism, immunologic abnormalities, and Pelger-Huët anomaly.Methods and Results: Here, we describe a 4-year-old girl who presented with dehydration in the setting of acute gastroenteritis and fever but went on to develop PALF on day 2 of hospitalization. She clinically recovered with supportive measures, but after discharge, had at least 2 additional episodes of PALF. Ultimately, she underwent liver transplant and her recurrent episodes of PALF did not recur throughout a 6-year follow-up period. Whole-exome sequencing post-liver transplant initially revealed two variants of uncertain significance in the NBAS gene. Parental studies confirmed the c.1549C > T(p.R517C; now likely pathogenic) variant from her mother and a novel c.4646T > C(p.L1549P) variant from her father. In silico analyses predicted these variants to have a deleterious effect on protein function. Consistent with previously characterized NBAS mutation-associated disease (NMAD), our patient demonstrated the following features: progeroid facial features, hypoplasia of the 12th ribs, Pelger-Huët anomaly on peripheral blood smear, and abnormal B and NK cell function. Conclusion:Altogether, we describe a novel pathogenic variant in the NBAS gene of a patient with NMAD and report the resolution of recurrent PALF secondary to NMAD following liver transplantation.

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Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review

Cited by 20 publications

References 26 publications

A second case of multisystem inflammatory syndrome associated with SARS‐CoV‐2 in a liver‐transplanted child

A second case of multisystem inflammatory syndrome associated with SARS‐CoV‐2 in a liver‐transplanted child

SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1

Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation

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