Unknown Multifocal Ileal Carcinoid Revealed by 18F-FDOPA PET/CT

Impériale, Alessio; Avérous, Gerlinde; Chilinseva-Natorov, Natalia; Hubelé, F.; Triki, E.; Bellocq, Jean‐Pierre; Namer, Izzie Jacques; Brigand, Cécile

doi:10.1210/jc.2013-4387

Cited by 7 publications

(5 citation statements)

References 4 publications

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“…Recently, heterozygous ACAN mutations were identified as a cause of ISS with a prevalence of 1.4-6% (1,5,33). As the autosomal dominant inheritance pattern and the presence of advanced BA have been reported as possible diagnostic indicators of aggrecanopathy (5,12,14,15,16), our study cohort was selected according to these inclusion criteria from a larger cohort of 51 patients with ISS. The total yield of ACAN pathogenic variants in our study group was 37.5% (6/16).…”

Section: Discussionmentioning

confidence: 99%

“…On the contrary, the affected mother of P10 (P10M) did not show any skeletal or articular features by the time of publication (age of 34 years), indicating wide phenotype variability within the same family. Recently, it was proposed that heterozygous null variants in the upstream half of the gene had a primary effect on growth plate cartilage, whereas those in the downstream half of the gene affected both, articular and growth plate cartilage (5,12). As the joint disease occurred also in our patients (P1F, P6, P6M, P6U, and P6GM) carrying pathogenic null variants in the upstream half of the gene, the genotype-phenotype correlation becomes more complicated, as it has been already described in some other studies (1,14).…”

Section: Discussionmentioning

confidence: 99%

“…Homozygous ACAN mutations lead to spondyloepimetaphyseal dysplasia, aggrecan type (SEMD, OMIM#612813) (8). Heterozygous mutations can present as spondyloepiphyseal dysplasia, Kimberley type (SEDK, OMIM#608361) (9) and short stature associated with or without accelerated bone age (BA), and an earlyonset of osteoarthritis and/or osteoarthritis dissecans (OMIM#165800) (10,11,12).…”

Section: Introductionmentioning

confidence: 99%

“…The autosomal dominant inheritance pattern and the presence of advanced BA have been consistent features of aggrecanopathy, serving as diagnostic indicators. Recently, heterozygous ACAN mutations were reported in approximately 40 families worldwide (5,10,12,13,14,15,16), including few individuals with a decelerated BA (10,16).…”

Section: Introductionmentioning

confidence: 99%

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High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

Stavber

Hovnik

Kotnik

et al. 2020

European Journal of Endocrinology

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Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency of pathogenic ACAN variants in selected individuals. Design The single-center cohort study was conducted at a tertiary university children’s hospital. From 51 unrelated patients with ISS, the 16 probands aged between 3 and 18 years (12 females) with advanced bone age and/or autosomal dominant inheritance pattern of short stature were selected for the study. Fifteen family members of ACAN-positive probands were included. Exome sequencing was performed in all probands, and additional copy number variation (CNV) detection was applied in selected probands with a distinct ACAN-associated phenotype. Results Systematic phenotyping of the study cohort yielded 37.5% (6/16) ACAN-positive probands, with all novel pathogenic variants, including a 6.082 kb large intragenic deletion, detected by array comparative genomic hybridization (array CGH) and exome data analysis. All variants were co-segregated with short stature phenotype, except in one family member with the intragenic deletion who had an unexpected growth pattern within the normal range (−0.5 SDS). One patient presented with otosclerosis, a sign not previously associated with aggrecanopathy. Conclusions ACAN pathogenic variants presented a common cause of familial ISS. The selection criteria used in our study were suggested for a personalized approach to genetic testing of the ACAN gene in clinical practice. Our results expanded the number of pathogenic ACAN variants, including the first intragenic deletion, and suggested CNV evaluation in patients with typical clinical features of aggrecanopathy as reasonable. Intra-familial phenotypic variability in growth patterns should be considered.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

Stavber

Hovnik

Kotnik

et al. 2020

European Journal of Endocrinology

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“…Next-generation sequencing has also shown that many genetic disorders that were previously thought to be only associated with skeletal dysplasia can present as dominant forms of apparent idiopathic short stature. These include, for example, abnormalities in the gene for the retinoic acid degrading enzyme CYP26C1 (15), coding and non-coding regions of the short-stature homeobox-containing gene SHOX (16,17), the ACAN gene coding for the growth plate extracellular matrix proteoglycan aggrecan (18,19), the natriuretic peptide receptor-B gene NPR2 (20,21,22) and the gene encoding Indian Hedgehog ( IHH ) (23).…”

Section: The Genetic Basis Of Short Staturementioning

confidence: 99%

Achieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy

Wit

Deeb

Bin-Abbas

et al. 2019

Jcrpe

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It is over sixty years since the first administration of human growth hormone (GH) to children with GH deficiency, and over thirty years since recombinant human GH has been available for treatment of GH deficiency and a wider range of non-GH deficiency disorders. From a diagnostic perspective, genetic analysis, using single gene or Sanger sequencing and more recently next generation or whole exome sequencing, has brought advances in the diagnosis of specific causes of short stature, which has enabled therapy to be targeted more accurately. Genetic discoveries have ranged from defects of pituitary development and GH action to abnormalities in intracellular mechanisms, paracrine regulation and cartilage matrix formation. The strategy of GH therapy using standard doses has evolved to individualised GH dosing, depending on diagnosis and predictors of growth response. Evidence of efficacy of GH in GH deficiency, Turner syndrome and short children born small for gestational age is reviewed. The importance of critical assessment of growth response is discussed, together with the recognition and management of a poor or unsatisfactory growth response and the organisational issues related to prevention, detection and intervention regarding suboptimal adherence to GH therapy.

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