Pregnancy outcome with maternal <i>HNF1B</i> gene mutations and 17q12 deletions

Morton, Adam; Li, Ling; Wilson, Caroline

doi:10.1177/1753495x221109734

Cited by 2 publications

(4 citation statements)

References 39 publications

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“…Variants in the HNF1B/TCF2 gene, however, have not been reported to our knowledge in fetuses with BRA 127 . Nor has 17q12 deletion syndrome, which is likely, at least in part, driven at least in part by the loss of HNF1B 128 …”

Section: Resultsmentioning

confidence: 80%

“…127 Nor has 17q12 deletion syndrome, which is likely, at least in part, driven at least in part by the loss of HNF1B. 128 Holzgreve syndrome, 83 also known as Thomas syndrome, 82 thought to be AR, presents with multiple congenital anomalies: BRA (or renal hypoplasia), bilateral cleft lip and palate, and complex heart defects. The molecular genetic basis is not understood.…”

Section: Clinically Recognized Syndromes Of Unknown Genetic Etiologymentioning

confidence: 99%

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The genetic etiologies of bilateral renal agenesis

Kirschen,

Blakemore,

Al‐Kouatly

et al. 2024

Prenatal Diagnosis

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ObjectiveThe goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition.MethodsA literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology. The cases were further categorized as isolated versus non‐isolated, describing additional findings reported prenatally, postnatally, and postmortem. Inheritance pattern was also documented when appropriate in addition to the reported timing of diagnosis and sex.ResultsWe identified six cytogenetic abnormalities and 21 genes responsible for 20 single gene disorders associated with BRA. Five genes have been reported to associate with BRA without other renal anomalies; sixteen others associate with both BRA as well as unilateral renal agenesis. Six clinically recognized syndromes/associations were identified with an unknown underlying genetic etiology. Genetic etiologies of BRA are often phenotypically expressed as other urogenital anomalies as well as complex multi‐system syndromes.ConclusionMultiple genetic etiologies of BRA have been described, including cytogenetic abnormalities and monogenic syndromes. The current era of the utilization of exome and genome‐wide sequencing is likely to significantly expand our understanding of the underlying genetic architecture of BRA.

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Section: Resultsmentioning

confidence: 80%

Section: Clinically Recognized Syndromes Of Unknown Genetic Etiologymentioning

confidence: 99%

The genetic etiologies of bilateral renal agenesis

Kirschen,

Blakemore,

Al‐Kouatly

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

“…In contrast to patients with HNF-1β mutations, those diagnosed with the 17q12 microdeletion syndrome typically have a lesser BMI and ofttimes claim insulin therapy. 10 This could elucidate our patient’s below-average BMI, lean physique, and dependence on insulin treatment.…”

Section: Discussionmentioning

confidence: 87%

“…The severity of clinical symptoms often aligns with the extent of gene deletions. 8 , 10 While the 17q12 microdeletion syndrome entails the loss of 15 genes, recent studies indicate that most primary clinical signs are predominantly associated with the HNF-1β gene deletion. 11 HNF-1β gene deletion was initially thought to be associated with renal malformations, but current studies have found an expanding phenotype of HNF-1β gene deletion that includes lower urinary tract malformations and renal magnesium wasting.…”

Section: Introductionmentioning

confidence: 99%

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied

Zhang,

Ma,

Zang

et al. 2024

TACG

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Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant inherited disorder prevalent among adolescents. Typically, it manifests with hyperglycemia before the age of 25. MODY5 is attributed to a mutation in the Hepatocyte Nuclear Factor-1β (HNF-1β) gene. A complete absence of HNF-1β is observed in 50% of those with MODY5. The 17q12 microdeletion syndrome closely linked with MODY5. Its incidence in the general population is around 1 in 14,500 and is linked with facial deformities, diabetes, polycystic kidneys, pancreatic hypertrophy, liver anomalies, and neuropsychological impairments. The most primary clinical signs are predominantly associated with the HNF-1β gene deletion. We chronicle the case of a male of 19 years of age diagnosed with diabetes, who, alongside persistent liver damage and polycystic kidneys, was referred from a community hospital to the Xuzhou Central Hospital. His clinical presentation included diabetes, liver dysfunction, polycystic kidneys, lipid irregularities, insulin resistance, and fatty atrophy. Subsequent genetic screening unveiled a 17q12 chromosomal deletion and an absence of the Hepatocyte Nuclear Factor-1β (HNF-1β) gene. Hence, for adolescent patients lacking a familial diabetes history but exhibiting symptoms like polycystic kidneys, liver damage, lipid irregularities, and fatty atrophy, a thorough assessment for the 17q12 microdeletion syndrome becomes imperative.

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Pregnancy outcome with maternal HNF1B gene mutations and 17q12 deletions

Cited by 2 publications

References 39 publications

The genetic etiologies of bilateral renal agenesis

The genetic etiologies of bilateral renal agenesis

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied

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