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Qiuli Liu, Gang Yuan, Dali Tong, Gaolei Liu, Yuting Yi, Jun Zhang, Yao Zhang, Lin-ang Wang, Luofu Wang, Dianzheng Zhang, Rongrong Chen, Yanfang Guan, Xin Yi, Weihua Lan and Jun Jiang

). Since some data suggest that the same mutation might cause different VHL types in different races ( 8 , 9 ), it is critical to fully characterize genotype–phenotype correlations of this disease in different patient populations. In this study, we

Open access

Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike and the AQUAPE CAH Study Group

countries throughout the world, including Germany (1999) and Austria (2001). We report on allelic frequencies and genotype-phenotype correlations in a pediatric cohort of 538 CAH patients, the largest European cohort investigated to date. Furthermore, we

Open access

Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

75 – 82 . ( https://doi.org/10.1007/s12022-017-9469-4 ) 28116635 10.1007/s12022-017-9469-4 18 Liu Q Yuan G Tong D Liu G Yi Y Zhang J Zhang Y Wang LA Wang L Zhang D , et al . Novel genotype-phenotype correlations in five Chinese families with Von

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well defined, and thus, the precise diagnosis is challenging. This study focused on comparing the relationship between clinical assessment and genetic findings in a cohort of well-phenotyped patients with 46,XY DSD. The study was an analysis of clinical investigations followed by genetic testing performed on 35 patients presenting to a single center. The clinical assessment included external masculinization score (EMS), endocrine profiling and radiological evaluation. Array-comparative genomic hybridization (array-CGH) and sequencing of DSD-related genes were performed. Using an integrated approach, reaching the definitive diagnosis was possible in 12 children. The correlation between clinical and genetic findings was higher in patients with a more severe phenotype (median EMS 2.5 vs 6; P = 0.04). However, in 13 children, at least one variant of uncertain significance was identified, and most times this variant did not correspond to the original clinical diagnosis. In three patients, the genetic studies guided further clinical assessment which resulted in a reclassification of initial clinical diagnosis. Furthermore, we identified eight patients harboring variants in more than one DSD genes, which was not seen in controls (2.5%; P = 0.0003). In summary, taking into account potential challenges in reaching the definitive diagnosis in 46,XY DSD, only integrated approach seems to be the best routine practice.

Open access

Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar and Nalini Shah

, intra-familial variability in clinical phenotype was well recognized ( 1 , 78 ). Thereafter, study of genotype–phenotype correlation in TAS patients was based on observing variability in clinical manifestations in patients having same individual

Open access

Ruth Therese Casey, Deborah Saunders, Benjamin George Challis, Deborah Pitfield, Heok Cheow, Ashley Shaw and Helen Lisa Simpson

are required to establish the risks of developing malignancy related to radiation exposure, to tailor bespoke screening programmes. Ongoing prospective collection of data will also establish whether genotype–phenotype correlations exist and guide

Open access

Mirjana Kocova, Vesna Janevska and Violeta Anastasovska

that the genotype–phenotype correlation in CAH is not found in all patients ( 2 , 28 ), genetic analysis of larger TART patient cohorts might discover additional genotypes that are associated with TART. Ultrasound examination is very useful in the

Open access

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

explaining their mild non-autoimmune hypothyroidism. TBX3 genotype/phenotype correlations Clinical findings of UMS patients with TBX3 mutations belonging to the 17 previously reported families and the two families here described are shown in

Open access

Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

previous study reported that patients with the classical form of CAH most commonly had an IVS2 AS-13 (A/C to G) mutation and a large deletion in the CYP21A2 gene ( 20 ). These results indicate that a strong genotype–phenotype correlation exists in CAH

Open access

Ozlem Atan Sahin, Damla Goksen, Aysel Ozpinar, Muhittin Serdar and Huseyin Onay

between type 1 DM and VDR gene polymorphisms Apa I, Bsm I, Fok I and Taq I, accordingly demonstrate more reliable statistical results to rule out genotype–phenotype correlation of type 1 DM in children. Methods Search strategy criteria For