دورية أكاديمية
أعرض في EDS

Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.

التفاصيل البيبلوغرافية
العنوان: Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
المؤلفون: Dotto RP; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Santana LS; Grupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/LIM25, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brasil., Lindsey SC; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Caetano LA; Grupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/LIM25, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brasil., Franco LF; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Moisés RCMS; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Sa JR; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Nishiura JL; Disciplina de Nefrologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Teles MG; Grupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/LIM25, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brasil., Heilberg IP; Disciplina de Nefrologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Dias-da-Silva MR; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Giuffrida FMA; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.; Departamento de Ciências da Vida, Universidade do Estado da Bahia (UNEB), Salvador, BA, Brasil., Reis AF; Disciplina de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.
المصدر: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2019 May-Jun; Vol. 63 (3), pp. 250-257. Date of Electronic Publication: 2019 May 02.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Segmento Farma Editores Country of Publication: Brazil NLM ID: 101652058 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2359-4292 (Electronic) Linking ISSN: 23593997 NLM ISO Abbreviation: Arch Endocrinol Metab Subsets: MEDLINE
أسماء مطبوعة: Original Publication: São Paulo, SP : Segmento Farma Editores
مواضيع طبية MeSH: Mutation*, Diabetic Nephropathies/*genetics , Hepatocyte Nuclear Factor 1-beta/*genetics , Hyperglycemia/*genetics , Kidney Diseases, Cystic/*genetics, Adult ; Brazil ; Cohort Studies ; Diabetic Nephropathies/complications ; Gene Deletion ; Humans ; Hyperglycemia/complications ; Kidney Diseases, Cystic/complications ; Middle Aged ; Phenotype ; Polymorphism, Genetic/genetics
مستخلص: Objective: To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia.
Subjects and Methods: We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited.
Results: We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father.
Conclusion: The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).
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المشرفين على المادة: 0 (HNF1B protein, human)
138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
تواريخ الأحداث: Date Created: 20190509 Date Completed: 20190909 Latest Revision: 20231003
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10522195
DOI: 10.20945/2359-3997000000138
PMID: 31066763
قاعدة البيانات: MEDLINE
الوصف
تدمد:2359-4292
DOI:10.20945/2359-3997000000138