An <i><scp>ANKRD</scp>26</i> nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

Uddin, K. M. Furkan; Amin, Robed; Majumder, Sabbiha Nadia; Aleem, Mohammad Abdul; Rahaman, Md. Atikur; Dity, Nushrat Jahan; Baqui, M. D. Abdul; Akter, Hosneara; Rahman, MM; Woodbury‐Smith, Marc; Scherer, Stephen W.; Uddin, Mohammed

doi:10.1002/ccr3.1595

Cited by 9 publications

(10 citation statements)

References 11 publications

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“…Out of range 11,12 Its mRNA expression is rich in tissues such as the brain, pituitary gland, and lymphocytes. 13 Mutations in the 5 0 -UTR are typically associated with thrombocytopenia and can be referred to as ANKRD26related thrombocytopenia (ANKRD26-RT) with normal platelet size, absent to mild bleeding, and an increased risk for developing myeloid malignancies. 12,13 Although few dermatological cases associated with ANKRD26 mutations have been reported, a case of epidermodysplasia verruciformis in a pediatric female has been associated with the mutation.…”

Section: Lab Resultsmentioning

confidence: 99%

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Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

et al. 2023

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Cutaneous non‐Langerhans cell histiocytosis (NLCH) is a rare and biologically benign entity that can be broadly classified into two categories: xanthogranuloma and non‐xanthogranuloma. The xanthogranuloma family is characterized by a proliferation of histiocytes with both macrophage and dendritic cell differentiation, negative BRAF mutation, and rare Touton‐type giant cells. Molecular studies have reported that mutations involved in the MAPK signaling pathways are implicated in the pathophysiology of histiocytoses. While LCH is associated with the somatic mutation of BRAF v600e, however, mutations and gene fusions in NLCH cases are undefined. We hereby present a 19‐month‐old female with recalcitrant nodular rashes diagnosed as NLCH with associated novel genetic mutation involving ANKRD26 and PDGFRB genes, as well as PDGFRB::CD74 fusion mRNA. Immunohistochemical staining showed strong and diffuse CD68 and CD163 positivity, and negative CD1a, CD207, ALK D5F3, S100 protein, and BRAF V600E (VE1). Albeit unknown significance, this case of an ANKRD26 and PDGFRB gene mutation in cutaneous NLCH has not been reported prior in the literature. Our case highlights the advantage of pathology and genetic studies in cutaneous NLCH to increase the understanding of this heterogeneous enigmatic disorder and identify further options in management.

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Section: Lab Resultsmentioning

confidence: 99%

“…12,13 Although few dermatological cases associated with ANKRD26 mutations have been reported, a case of epidermodysplasia verruciformis in a pediatric female has been associated with the mutation. 13 It remains unknown whether further dermatological diseases are associated with ANKRD26 mutations.…”

Section: Lab Resultsmentioning

confidence: 99%

Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

et al. 2023

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“…Therefore, early diagnosis of NDD cases in children may lead to better outcomes through expeditious educational planning and therapeutics ( Filipek et al, 1999 ). In Bangladesh, the genetic cause of breast cancer, intellectual disability, and rare diseases was uncovered by whole-genome sequencing, whole-exome sequencing, targeted sequencing, chromosomal microarray analysis, and quantitative PCR ( Uddin K. M. F. et al, 2018 ; Akter et al, 2019 ; Rahman et al, 2019 ; Uddin et al, 2019 ; Akter et al, 2021 ). However, there is no comprehensive genetic study carried out with a large NDD cohort.…”

Section: Introductionmentioning

confidence: 99%

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

Akter

Rahman²,

Sarker³

et al. 2023

Front. Genet.

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Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify clinically relevant CNVs, genes and their phenotypic characteristics in an ethnically underrepresented homogenous population of Bangladesh.Methods: We have conducted chromosomal microarray analysis (CMA) for 212 NDD patients with male to female ratio of 2.2:1.0 to identify rare CNVs. To identify candidate genes within the rare CNVs, gene constraint metrics [i.e., “Critical-Exon Genes (CEGs)”] were applied to the population data. Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) was followed in a subset of 95 NDD patients to assess the severity of autism and all statistical tests were performed using the R package.Results: Of all the samples assayed, 12.26% (26/212) and 57.08% (121/212) patients carried pathogenic and variant of uncertain significance (VOUS) CNVs, respectively. While 2.83% (6/212) patients’ pathogenic CNVs were found to be located in the subtelomeric regions. Further burden test identified females are significant carriers of pathogenic CNVs compared to males (OR = 4.2; p = 0.0007). We have observed an increased number of Loss of heterozygosity (LOH) within cases with 23.85% (26/109) consanguineous parents. Our analyses on imprinting genes show, 36 LOH variants disrupting 69 unique imprinted genes and classified these variants as VOUS. ADOS-2 subset shows severe social communication deficit (p = 0.014) and overall ASD symptoms severity (p = 0.026) among the patients carrying duplication CNV compared to the CNV negative group. Candidate gene analysis identified 153 unique CEGs in pathogenic CNVs and 31 in VOUS. Of the unique genes, 18 genes were found to be in smaller (<1 MB) focal CNVs in our NDD cohort and we identified PSMC3 gene as a strong candidate gene for Autism Spectrum Disorder (ASD). Moreover, we hypothesized that KMT2B gene duplication might be associated with intellectual disability.Conclusion: Our results show the utility of CMA for precise genetic diagnosis and its integration into the diagnosis, therapy and management of NDD patients.

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“…Rare genetic disorders, while individually uncommon, collectively impact significant numbers worldwide 1 , with approximately 7,000 rare diseases estimated to affect an estimated 350 million people (European Organization for Rare Diseases; EURORDIS). These disorders encompass a spectrum of rare complex clinical manifestations 2 , 3 that can be difficult to diagnose and pinpoint causation. Clinics in developing countries are not equipped with technologically advanced healthcare facilities for diagnosis and treatment.…”

Section: Introductionmentioning

confidence: 99%

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

Akter

Hossain

Dity³

et al. 2021

npj Genom. Med.

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Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare genetic diseases. We present evidence for disease-causing autosomal recessive variants in a range of disease-associated genes such as DHH-associated 46,XY gonadal dysgenesis (GD) or 46,XY sex reversal 7, GNPTAB-associated mucolipidosis II alpha/beta (ML II), BBS1-associated Bardet–Biedl Syndrome (BBS), SURF1-associated Leigh Syndrome (LS) and AP4B1-associated spastic paraplegia-47 (SPG47) in unrelated affected members from Bangladesh. Our analysis pipeline detected three homozygous mutations, including a novel c. 863 G > C (p.Pro288Arg) variant in DHH, and two compound heterozygous variants, including two novel variants: c.2972dupT (p.Met991Ilefs*) in GNPTAB and c.229 G > C (p.Gly77Arg) in SURF1. All mutations were validated by Sanger sequencing. Collectively, this study adds to the genetic heterogeneity of rare genetic diseases and is the first report elucidating the genetic profile of (consanguineous and nonconsanguineous) rare genetic diseases in the Bangladesh population.

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An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

Cited by 9 publications

References 11 publications

Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non‐Langerhans cell histiocytosis: Case report and literature review

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

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