A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

Stellaria ruderalis is an annual (semi)ruderal species from the S. media group, which has been recently published by Lepší et al., therefore, its distribution range in Europe is insufficiently known. This paper is based on field exploration of 39 localities of S. media s.l. in the Lviv region, Western Ukraine. The first report of S. ruderalis in Ukraine comes from Dmytre village, where it grows at roadsides and arable field edges in a semiruderal habitat of the alliance Aegopodion podagrariae. As only a single population was found, Stellaria ruderalis is obviously still spreading in Western Ukraine, a fact which was reported already for northern Central Europe. This record represents the northeasternmost locality of the species so far known.

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Novel mutation c.1224_1225insGTCC (p.Cys409Valfs*41) of MEN1 gene in a multiple endocrine neoplasia type 1 case with insulinoma and primary hyperparathyroidism: first report of a Costa Rican case

10.22541/au.159285373.37409238 ◽

2020 ◽

Author(s):

Paula Molina ◽

Ernesto Ruiz ◽

Ramses Badilla Porras ◽

Giovanni Sed

Keyword(s):

Primary Hyperparathyroidism ◽

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Novel Mutation ◽

Costa Rican ◽

First Report ◽

Men1 Gene ◽

Endocrine Neoplasia ◽

Endocrine Neoplasia Type

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Unveiling the 46,XY disorder of sex development patients family with a novel mutation in the GATA4 gene

10.21203/rs.3.rs-154837/v1 ◽

2021 ◽

Author(s):

Liwei Li ◽

Hui Yang ◽

Junhong Zhang ◽

Huijing Lv ◽

Qing Li ◽

...

Keyword(s):

Karyotype Analysis ◽

Novel Mutation ◽

Binding Protein ◽

Gonadal Development ◽

Heterozygous Mutation ◽

Disorder Of Sex Development ◽

First Report ◽

Sex Development ◽

Physical Examinations

Abstract Background GATA-binding protein 4 (GATA4) is the critical regulator in gonadal development and its mutation has been reported related with 46,XY disorder of sex development (DSD). Here, we found the two Chinese cases with 46,XY DSD carried the GATA4 mutation. Physical examinations, B-ultrasound and Karyotype analysis were performed and confirmed the two patients with 46,XY DSD. Results Sequencing were performed and the heterozygous mutation p.Gly375Arg in GATA4 gene was identified in the 2 cases with 46,XY DSD. Their mother was identified carrying the p.Gly375Arg mutation in GATA4 protein. However, their father and litter sister without 46,XY DSD didn’t be found carrying the p.Gly375Arg mutation in GATA4 gene. Conclusion This is the first report that the case with 46,XY DSD carried the mutation Gly375Arg in the GATA4 gene. Our

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TREATMENT OF LACTASE DEFICIENCY IN CHILDREN’S OBESITY WITH GENOTYPE C/C 13910 OF LACTASE GENE

Wiadomości Lekarskie ◽

10.36740/wlek201901103 ◽

2019 ◽

Vol 72 (1) ◽

pp. 17-21

Author(s):

Alexandr Ye. Abaturov ◽

Yuri M. Stepanov ◽

Anna A. Nikulina

Keyword(s):

Insulin Resistance ◽

Healthy Children ◽

Lactase Deficiency ◽

Obese Children ◽

Hydrogen Breath Test ◽

Lactose Maldigestion ◽

Group I ◽

Comparison Groups ◽

Genotype C ◽

Lactase Gene

Introduction: Excess lactose in the diet of modern man causes the development of not only lactase deficiency, but it can be a factor that contributes to obesity. The aim: To study associations between obesity and genotype C/C 13910 of lactase gene (LCT) in children, to investigate the effectiveness of treatment using drug exogenous lactase and a low-lactose diet. Materials and methods: genotyping of lactase gene by real-time polymerase chain reaction, determining the level of lactose maldigestion by hydrogen breath test (HBT), estimating the insulin resistance with the HOMA-IR index in 70 obese children and 40 healthy children 6 - 18 years. Obese children with genotype C/C 13910 and lactose maldigestion (n=40) were randomized in two groups: children from group I (n=20) received an exogenous lactase preparation, and children from group II (n=20) - low-lactose diet. Results: in obese children, the genotype C/C 13910 is 2 times more often than in healthy children. Obese children with genotype C/C 13910 have a significantly higher value of HBT (32.8–39.8 ppm) compared to healthy children (p<0.05), and an increased value of the HOMA-IR index. After treatment, there was a significant decrease in HBT and the HOMA-IR index in the two comparison groups. Conclusions: signs of insulin resistance are observed in children with obesity, genotype C/C 13910 and lactose maldigestion. The use of exogenous lactase in the therapy or the administration of a low-lactose diet cause approximately the same decrease in the HOMA-IR index.

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Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

BMC Gastroenterology ◽

10.1186/1471-230x-9-8 ◽

2009 ◽

Vol 9 (1) ◽

Cited By ~ 22

Author(s):

Suvi Torniainen ◽

Roberta Freddara ◽

Taina Routi ◽

Carolien Gijsbers ◽

Carlo Catassi ◽

...

Keyword(s):

Lactase Deficiency ◽

Novel Mutations ◽

Lactase Gene

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Molecular and morphological exploration of a mixed population of two potato-parasiting nematode species, Globodera rostochiensis and G. pallida

Helminthologia ◽

10.2478/s11687-014-0201-3 ◽

2014 ◽

Vol 51 (1) ◽

pp. 3-6 ◽

Cited By ~ 3

Author(s):

O. Douda ◽

M. Zouhar ◽

M. Renčo ◽

M. Marek

Keyword(s):

Central Europe ◽

Nematode Species ◽

Globodera Rostochiensis ◽

Cyst Nematode ◽

Mixed Population ◽

Potato Field ◽

Cross Hybridization ◽

First Report ◽

Parasitic Species ◽

Plant Parasitic

Abstract In this work, we report results of molecular and morphological analyses of a potato field population of Globodera (Nematoda: Heteroderidae) species, in Slovakia. Unexpectedly, our data show a mixed occurrence of two potato cyst nematode species, Globodera rostochiensis and G. pallida, in this locality. To our knowledge, this is the first report of mixed occurrence of these economically important plant-parasitic species in the same locality in the Central Europe. In addition, this finding reinforces the possibility of the cross-hybridization between these two nematode species that might result in a generation of new genotypes.

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