Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

Raile, Klemens; Klopocki, Eva; Holder, Martin; Wessel, Theda; Galler, Angela; Deiss, Dorothee; Müller, Dominik; Riebel, T.; Horn, Denise; Maringa, M; Weber, J.; Ullmann, Reinhard; Grüters, Annette

doi:10.1210/jc.2008-2189

Cited by 82 publications

(93 citation statements)

References 20 publications

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“…The difference in clinical presentation of the HNF1β mutation is thought to be caused by the differences in HNF1β activity in conjunction with the repression of HNF1α activity in selected promoters and tissues [8]. Raile et al, suggested that gene dosage of other genetic factors and/or environmental triggers could play a role in the pattern and severity of the HNF1β-associated MODY [9]. Due to the rarity of patients with HNF1β mutation, the clinical manifestations and correlation with gene mutations are not well understood.…”

Section: Discussionmentioning

confidence: 99%

“…To date, 47 individuals have been reported with liver disease associated with HNF1β gene defects, 25 as case reports [6,[8][9][10][11][12][13][14] and 22 identified in patients with the known renal disease being screened for HNF1β defects [15][16][17]. Liver involvement may present as cholestasis, elevated liver enzyme levels (ALT and/or GGT), hepatomegaly, or steatosis.…”

Section: Discussionmentioning

confidence: 99%

“…An etiology for cholestasis was not established in four, while one child was diagnosed with biliary atresia and underwent portoenterostomy [8][9][10]13]. Long-term follow-up of three patients showed resolution of jaundice between 5 and 12 months of age.…”

Section: Case Reportmentioning

confidence: 96%

“…Long-term follow-up of three patients showed resolution of jaundice between 5 and 12 months of age. The diagnosis of an HNF1β defect was not entertained until the children developed insulin-dependent diabetes mellitus [8][9][10]13]. The exception is the patient described by Kotalova et al, where a defect was found in the HNF1β gene as part of a study looking for genes associated with biliary atresia [13].…”

Section: Case Reportmentioning

confidence: 99%

“…The percentage of patients from case reports with biochemical cholestasis (elevated GGT) is 78%, while the percentage with elevated ALT is 76% [6,[8][9][10][11][12][13][14]. This is probably an over-representation as these patients had known liver disease and were subsequently found to harbor a defect in HNF1β.…”

Section: Case Reportmentioning

confidence: 99%

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Hepatocyte Nuclear Factor 1-β Gene Mutation: Brief Report and Review of Hepatic Involvement

Nowicki¹

2018

ACRI

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 96%

Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

See 3 more Smart Citations

Hepatocyte Nuclear Factor 1-β Gene Mutation: Brief Report and Review of Hepatic Involvement

Nowicki¹

2018

ACRI

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17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

Dixit¹,

Patel²,

Harrison³

et al. 2012

American J of Med Genetics Pt A

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Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome.

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Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

Quintero‐Rivera

Woo

Bomberg

et al. 2014

American J of Med Genetics Pt A

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Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four-year-old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre-and post-natal presentation of this rare microdeletion syndrome.

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Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

Cited by 82 publications

References 20 publications

Hepatocyte Nuclear Factor 1-β Gene Mutation: Brief Report and Review of Hepatic Involvement

Hepatocyte Nuclear Factor 1-β Gene Mutation: Brief Report and Review of Hepatic Involvement

17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

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