Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

Capo‐Chichi, José‐Mario; Mehawej, Cybel; Delague, Valérie; Caillaud, Catherine; Khneisser, Issam; Hamdan, Fadi F.; Michaud, Jacques L.; Kibar, Zoha; Mégarbané, André

doi:10.1016/j.ejmg.2015.11.005

Cited by 41 publications

(44 citation statements)

References 9 publications

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“…With this report, 23 NBAS -disease children with recurrent liver crises are described: 14 from European countries [12, 14, 19], 3 from the United States [12, 14], 3 from Lebanon (siblings; parental consanguinity known) [13], and our 3 Han Chinese. These patients’ phenotypes range from isolated RALF to RALF in association with multisystemic disease.…”

Section: Discussionmentioning

confidence: 99%

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

Qiu

Gong

et al. 2017

BMC Gastroenterol

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BackgroundUnderlying causes in Chinese children with recurrent acute liver failure (RALF), including liver crises less than full acute liver failure, are incompletely understood. We sought to address this by searching for genes mutated in such children.MethodsFive unrelated Chinese boys presenting between 2012 and 2015 with RALF of unexplained etiology were studied. Results of whole exome sequencing were screened for mutations in candidate genes. Mutations were verified in patients and their family members by Sanger sequencing. All 5 boys underwent liver biopsy.Results NBAS was the only candidate gene mutated in more than one patient (biallelic mutations, 3 of 5 patients; 5 separate mutations). All NBAS mutations were novel and predictedly pathogenic (frameshift insertion mutation c.6611_6612insCA, missense mutations c.2407G > A and c.3596G > A, nonsense mutation c.586C > T, and splicing-site mutation c.5389 + 1G > T). Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution.Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related RALF), with markedly elevated alanine aminotransferase and aspartate aminotransferase activities 24-72 h after elevation of body temperature, succeeded by severe coagulopathy and mild to moderate jaundice.ConclusionsAs in other countries, so too in China; NBAS disease is a major cause of fever-related RALF in children. The mutation spectrum of NBAS in Chinese children seems different from that described in other populations.Electronic supplementary materialThe online version of this article (doi:10.1186/s12876-017-0636-3) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

Qiu

Gong

et al. 2017

BMC Gastroenterol

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“…NBAS‐associated facial phenotype and genotype–phenotype correlations. (a–d) Composite photos obtained from patients (Balasubramanian et al, ; Capo‐Chichi et al, ; Kortum et al, ; Maksimova et al, ; Megarbane et al, ; Regateiro et al, ; Staufner et al, ) and age‐/gender‐matched controls. Facial features of subjects with biallelic inactivating/hypomorphic NBAS variants include hypotelorism, thin upper lip, pointed chin, and a progeroid appearance.…”

Section: Introductionmentioning

confidence: 99%

“…So far, 47 different pathogenic NBAS variants have been reported in 71 individuals. To explore possible genotype–phenotype correlations, the available clinical data were collected (Table S5; Balasubramanian et al, ; Capo‐Chichi et al, ; Kortum et al, ; Maksimova et al, ; Megarbane et al, ; Regateiro et al, ; Segarra et al, ; Staufner et al, ; E‐P03.292008: European Society of Human Genetics 2018 meeting). A total of 36 patients have been reported to carry the homozygous p.Arg1914His change associated with the SOPH phenotype (Maksimova et al, ; Park & Lee, ), while two patients were reported to have a skeletal phenotype associated with the homozygous c.6237−3C>G splice‐site change (Palagano et al, ; Prontera et al, ).…”

Section: Introductionmentioning

confidence: 99%

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

Carli¹,

Giorgio

Pantaleoni

et al. 2019

Human Mutation

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The pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) are associated with a clinical spectrum involving the hepatic, skeletal, ocular, and immune systems. Here, we report on two unrelated subjects with a complex phenotype solved by whole‐exome sequencing, who shared a synonymous change in NBAS that was documented to affect the transcript processing and co‐occurring with a truncating change. Starting from these two cases, we systematically assessed the clinical information available for all subjects with biallelic NBAS pathogenic variants (73 cases in total). We revealed a recognizable facial profile (hypotelorism, thin lips, pointed chin, and “progeroid” appearance) determined by using DeepGestalt facial recognition technology, and we provide evidence for the occurrence of genotype–phenotype correlations. Notably, severe hepatic involvement was associated with variants affecting the NBAS‐Nter and Sec39 domains, whereas milder liver involvement and immunodeficiency were generally associated with variants located at the N‐terminus and C‐terminus of the protein. Remarkably, no patient was reported to carry two nonsense variants, suggesting lethality of complete NBAS loss‐of‐function.

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“…Eventually, this subject was determined to carry a nonsense mutation of DYRK1A (MIM 600855). An association between recurrent hepatitis and SOPH syndrome (MIM 614800) was recently reported, and a European group also published a study on 36 patients with NBAS mutations manifesting multisystem disorders involving bone, connective tissue, liver, the immune system, and retina [32][33][34][35]. A total of 14 patients with the DYRK1A mutation were reported, and all individuals shared congenital microcephaly at birth, intellectual disability, severe speech impairment, short stature, and distinct facial features.…”

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confidence: 99%

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

et al. 2017

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Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

Cited by 41 publications

References 9 publications

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

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