Central and Eastern European heritage in genetics of hypopituitarism – how the prevalent ancestral PROP1 gene variants spread overseas

Abstract Paget’s disease of bone (PDB) is characterized by focal or multifocal increase in bone turnover. One of the most well-established candidate genes for susceptibility to PDB is Sequestosome 1 (SQSTM1). Mutations in SQSTM1 have been documented among Western-European, British and American patients with PDB. However, there is no information on SQSTM1 mutation status in PDB patients from the Central- and Eastern-European regions. In this study, we conducted a mutation screening for SQSTM1 gene variants in 82 PDB patients and 100 control participants in Hungary. Mutations of SQSTM1 were detected in 18 PDB patients (21.95%); associations between genotype and clinical characteristics were also analyzed. Altogether, six different exonic alterations, including two types of UTR variants in the SQSTM1 gene, were observed in our PDB patients. Similarly, to previous genetic studies on Paget’s disease, our most commonly detected variant was the c.1175C > T (p.Pro392Leu) in nine cases (four in monostotic and five in polyostotic form). We have surveyed the germline SQSTM1 variant distribution among Hungarian patients with PDB. We also highlighted that the pattern of the analyzed disease-associated pathophysiological parameters could partially discriminate PDB patients with normal or mutant SQSTM1 genotype. However, our findings also underline and strengthen that not solely SQSTM1 stands in the background of the complex PDB etiology.

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Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

European Journal of Human Genetics ◽

10.1038/ejhg.2015.126 ◽

2015 ◽

Vol 24 (3) ◽

pp. 415-420 ◽

Cited By ~ 16

Author(s):

Petra Dusatkova ◽

Roland Pfäffle ◽

Milton R Brown ◽

Natallia Akulevich ◽

Ivo JP Arnhold ◽

...

Keyword(s):

Hormone Deficiency ◽

Pituitary Hormone ◽

Gene Variants ◽

Pituitary Hormone Deficiency ◽

Combined Pituitary Hormone Deficiency ◽

Prop1 Gene

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Pragmatic Language Performance of Children Adopted Internationally

American Journal of Speech-Language Pathology ◽

10.1044/2018_ajslp-18-0075 ◽

2019 ◽

Vol 28 (2) ◽

pp. 501-514

Author(s):

Deborah A. Hwa-Froelich ◽

Hisako Matsuo

Keyword(s):

Social Communication ◽

False Belief ◽

Pragmatic Language ◽

Eastern European ◽

Language Performance ◽

Emotion Identification ◽

False Belief Understanding ◽

Quasi Experimental ◽

Pragmatic Communication ◽

Eastern European Countries

Purpose Pragmatic language is important for social communication across all settings. Children adopted internationally (CAI) may be at risk of poorer pragmatic language because of adverse early care, delayed adopted language development, and less ability to inhibit. The purpose of this study was to compare pragmatic language performance of CAI from Asian and Eastern European countries with a nonadopted group of children who were of the same age and from similar socioeconomic backgrounds as well as explore the relationship among emotion identification, false belief understanding, and inhibition variables with pragmatic language performance. Method Using a quasi-experimental design, 35 four-year-old CAI (20 Asian, 15 Eastern European) and 33 children who were not adopted were included in this study. The children's pragmatic language, general language, and social communication (emotion identification of facial expressions, false belief understanding, inhibition) were measured. Comparisons by region of origin and adoption experience were completed. We conducted split-half correlation analyses and entered significant correlation variables into simple and backward regression models. Results Pragmatic language performance differed by adoption experience. The adopted and nonadopted groups demonstrated different correlation patterns. Language performance explained most of the pragmatic language variance. Discussion Because CAI perform less well than their nonadopted peers on pragmatic communication measures and different variables are related to their pragmatic performance, speech-language pathologists may need to adapt assessment and intervention practices for this population.

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