A missense TCF1 mutation in a patient with mody-3 and liver adenomatosis

Lerário, Antônio Marcondes; Brito, Luciana Pinto; Mariani, Beatriz Marinho de Paula; Fragoso, Maria Candida Barisson Villares; Machado, Marcel Autran; Teixeira, Ricardo Rodrigues

doi:10.1590/s1807-59322010001000024

Cited by 4 publications

(7 citation statements)

References 10 publications

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“…These data allow us to estimate the number of MODY cases in Brazil as approximately 140 000 to 280 000. However, until 2016, around 200 subjects of about 50 Brazilian families diagnosed with the 2 most common subtypes of MODY ( GCK and HNF1A ) have been described . Hence, MODY cases are clearly underestimated in Brazil.…”

Section: Introductionmentioning

confidence: 99%

“…However, until 2016, around 200 subjects of about 50 Brazilian families diagnosed with the 2 most common subtypes of MODY (GCK and HNF1A) have been described. [5][6][7][8][9][10][11][12][13][14][15][16][17][18] Hence, MODY cases are clearly underestimated in Brazil. Besides that, there is a great racial diversity in Brazilian people, contributing to a wide genetic background, an important difference from countries with more homogeneous population.…”

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confidence: 99%

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Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

et al. 2017

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Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK -MODY and HNF1A -MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY ( GCK / HNF1A ) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines. One hundred and nine probands were investigated, 45% with clinical suspicion of GCK -MODY and 55% with suspicion of HNF1A -MODY. Twenty-five different variants were identified in GCK gene (30 probands-61% of positivity), and 7 variants in HNF1A (10 probands-17% of positivity). Fourteen of them were novel (12- GCK /2- HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%- GCK /86%- HNF1A ) and likely pathogenic (44%- GCK /14%- HNF1A ), with 16% (5/32) as uncertain significance. This allows us to determine the pathogenicity classification more efficiently, and also reinforces the suspected associations with the phenotype among novel variants.

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

et al. 2017

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“…As liver adenomatosis sometimes causes a fatal outcome, screening by liver imaging is warranted for MODY3 patients.The age at which patients were diagnosed as having liver adenomatosis was variable (9,10,11). The youngest patient with liver adenomatosis described to date was 14 years old.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, cosegregation of liver adenomatosis and diabetes in 4 families and 1 patient harboring germline HNF1A mutations has been described (9,10,11). However, to our knowledge, there have been no reports of liver steatosis in young children who have the HNF1A mutation.…”

Section: Introductionmentioning

confidence: 99%

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

Nakamura¹,

İshidu²,

Tajima³

2012

JCRPE

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Maturity-onset diabetes of the young type 3 (MODY3) is caused by heterozygous mutation in the HNF1A gene. Liver adenomatosis has been reported in MODY3 patients. The patient reported in this paper is a Japanese girl who first developed hepatomegaly, fatty liver, and hepatic dysfunction at age 5 years. Liver biopsy demonstrated steatosis and degeneration of hepatocytes. At that time, blood glucose and HbA1c levels were within normal ranges. Elevated HbA1c was noticed 4 years later, but islet cell and glutamic acid decarboxylase antibodies were not detected in the serum. Therefore, MODY3 was suspected and subsequent analysis of the HNF1A gene identified a heterozygous germline splice donor-site mutation in intron 9. MODY3 patients should be screened by non-invasive liver imaging, and careful follow-up of liver disease should be performed. Conflict of interest:None declared.

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“…[42] Liver adenomas have also been reported to occur in MODY3 subjects, though the association is rare. [43]…”

Section: Maturity Onset Diabetes Of the Youngmentioning

confidence: 99%

Molecular diagnosis of maturity onset diabetes of the young in India

Nair

Chapla

Arulappan

et al. 2013

Indian J Endocr Metab

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Diabetes is highly prevalent in India and the proportion of younger patients developing diabetes is on the increase. Apart from the more universally known type 1 diabetes and obesity related type 2 diabetes, monogenic forms of diabetes are also suspected to be prevalent in many young diabetic patients. The identification of the genetic basis of the disease not only guides in therapeutic decision making, but also aids in genetic counselling and prognostication. Genetic testing may establish the occurrence and frequency of early diabetes in our population. This review attempts to explore the utilities and horizons of molecular genetics in the field of maturity onset diabetes of the young (MODY), which include the commoner forms of monogenic diabetes.

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A missense TCF1 mutation in a patient with mody-3 and liver adenomatosis

Cited by 4 publications

References 10 publications

Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

Molecular diagnosis of maturity onset diabetes of the young in India

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