Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
Arch. endocrinol. metab. (Online)
;
63(3): 250-257, May-June 2019. tab, graf
Article
Dans Anglais
| LILACS
| ID: biblio-1011159
ABSTRACT
ABSTRACT 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).
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Néphropathies diabétiques
/
Maladies kystiques rénales
/
Facteur nucléaire hépatocytaire HNF-1 bêta
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Hyperglycémie
/
Mutation
Type d'étude:
Etude d'étiologie
/
Etude d'incidence
/
Étude observationnelle
/
Facteurs de risque
Limites du sujet:
Adulte
/
Humains
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Arch. endocrinol. metab. (Online)
Thème du journal:
Endocrinologie
/
Métabolisme
Année:
2019
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Universidade Federal de São Paulo/BR
/
Universidade de São Paulo/BR
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