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Yao Chen and Shu-ying Fang

insulin resistance ( 11 ). Current studies of the genetics of PCOS mainly concentrate on multiple candidate genes, benefiting from the advances in technology including the completed HapMap project and genome-wide scans. Candidate genes are usually chosen

Open access

Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani and Maria Teresa Bonati

normosmic IHH (nIHH), while brain/pituitary malformations were recurrently found in affected patients. Since no variants in candidate genes for HH or hypopituitarism were found, these features can be considered part of the TBX3 loss

Open access

Luca Persani, Biagio Cangiano and Marco Bonomi

1 ). Table 1 Candidate genes for inherited CeH forms and related phenotypes. Gene OMIM Inheritance Phenotype Isolated CeH   TSHβ 188540 AR Neonatal onset with low TSH, high aGSU and normal PRL circulating

Open access

Ishita Gupta, Allal Ouhtit, Adil Al-Ajmi, Syed Gauhar A Rizvi, Hamad Al-Riyami, Marwa Al-Riyami and Yahya Tamimi

the onset of breast cancer either independently or in association with BRCA1/2 , such as the role played by genetic modifiers ( 22 ) that could represent useful diagnostic markers or targets for therapeutic purposes. One potential candidate gene

Open access

Ya-Fen Hu, Lin Hua, Xiu Tuo, Ting-Ting Shi, Yi-Lin Yang, Yun-Fu Liu, Zhong-Yu Yan and Zhong Xin

Background: The pathogenesis underlying the alterations of orbital architecture in Graves’ orbitopathy (GO) is not yet fully understood. The present study aimed to investigate the association of DNA methylation in peripheral blood and orbital volumetry in Chinese patients with GO.

Methods: A total of 35 GO subjects (70 orbits) were subjected to computed tomography (CT) scan. The total cross-sectional area of the extraocular muscles (orbital muscles, OM), total orbit area (TOA), and the exophthalmometry were measured, and OM/TOA ratio was calculated. Targeted bisulfite sequencing was performed on seven candidate genes.

Results: No significant correlation was established between the DNA methylation levels of these genes and exophthalmometry. The MBP methylation level was found to be correlated with OM/TOA ratio (P<0.05). Multiple linear regression analysis on parameters, including age, sex, TRAb, duration of GO, and DNA methylation levels of seven genes with OM/TOA ratio confirmed that MBP and OM/TOA ratio had a significant correlation (P<0.05). The partial least squares analysis showed that the top three genes with the highest loadings were MBP, BOLL, and BECN1, and OM/TOA ratio affected the DNA methylation block than exophthalmometry.

Conclusions: This study provided preliminary evidence that MBP is a potential gene associated with OM enlargement in GO patients according to the combination of DNA methylation sequencing and orbital CT measurement.

Open access

Fernanda A Correa, Ericka B Trarbach, Cintia Tusset, Ana Claudia Latronico, Luciana R Montenegro, Luciani R Carvalho, Marcela M Franca, Aline P Otto, Everlayny F Costalonga, Vinicius N Brito, Ana Paula Abreu, Mirian Y Nishi, Alexander A L Jorge, Ivo J P Arnhold, Yisrael Sidis, Nelly Pitteloud and Berenice B Mendonca

The genetic aetiology of congenital hypopituitarism (CH) is not entirely elucidated. FGFR1 and PROKR2 loss-of-function mutations are classically involved in hypogonadotrophic hypogonadism (HH), however, due to the clinical and genetic overlap of HH and CH; these genes may also be involved in the pathogenesis of CH. Using a candidate gene approach, we screened 156 Brazilian patients with combined pituitary hormone deficiencies (CPHD) for loss-of-function mutations in FGFR1 and PROKR2. We identified three FGFR1 variants (p.Arg448Trp, p.Ser107Leu and p.Pro772Ser) in four unrelated patients (two males) and two PROKR2 variants (p.Arg85Cys and p.Arg248Glu) in two unrelated female patients. Five of the six patients harbouring the variants had a first-degree relative that was an unaffected carrier of it. Results of functional studies indicated that the new FGFR1 variant p.Arg448Trp is a loss-of-function variant, while p.Ser107Leu and p.Pro772Ser present signalling activity similar to the wild-type form. Regarding PROKR2 variants, results from previous functional studies indicated that p.Arg85Cys moderately compromises receptor signalling through both MAPK and Ca2 + pathways while p.Arg248Glu decreases calcium mobilization but has normal MAPK activity. The presence of loss-of-function variants of FGFR1 and PROKR2 in our patients with CPHD is indicative of an adjuvant and/or modifier effect of these rare variants on the phenotype. The presence of the same variants in unaffected relatives implies that they cannot solely cause the phenotype. Other associated genetic and/or environmental modifiers may play a role in the aetiology of this condition.

Open access

Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

candidate-gene approach as the main strategy to identify the genetic cause of CH ( 3 ). As this strategy considers the patient’s clinical presentation to guide the molecular investigation, genes were heterogeneously screened in most studies – the same genes

Open access

Anastasia K Armeni, Konstantinos Assimakopoulos, Dimitra Marioli, Vassiliki Koika, Euthychia Michaelidou, Niki Mourtzi, Gregoris Iconomou and Neoklis A Georgopoulos

increasing power. It has been argued that correction for multiple testing in hypothesis-driven candidate gene association studies are too strict ( 34 ), and it was not conducted in the present study. Results Anthropometric and hormonal values of the

Open access

Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera and Aldo E Calogero

, cryptorchidism and micropenis), hand and feet abnormalities (brachidactyly, absent or hypoplastic middle phalanges of hands, talipes equinovarus). Candidate genes As it is simple to note, mental retardation, delayed psychomotor development, IUGR, failure

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

clinical examination, biochemical investigations and karyotype determination ( 4 , 5 ). Once a presumptive diagnosis has been made, targeted sequencing of candidate genes may then be performed at a later stage ( 5 ). Whilst reaching the correct diagnosis