Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Abnormalities, Multiple
/ diagnosis
Adult
Child
Chromosome Deletion
Chromosome Disorders
/ diagnosis
Chromosomes, Human, Pair 17
/ genetics
Cohort Studies
Comparative Genomic Hybridization
/ methods
DNA Mutational Analysis
/ methods
Diagnosis, Differential
Female
Hepatocyte Nuclear Factor 1-beta
/ genetics
Humans
Infant, Newborn
Kidney Diseases, Cystic
/ diagnosis
Male
Microarray Analysis
/ methods
Mutation
Pregnancy
Prenatal Diagnosis
/ methods
Syndrome
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
13
03
2019
revised:
14
07
2019
accepted:
20
08
2019
pubmed:
10
9
2019
medline:
12
8
2020
entrez:
10
9
2019
Statut:
ppublish
Résumé
17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compare their clinical and genetic data to those of previous studies. Prenatal sequencing and postnatal chromosomal microarray analysis were performed in seven individuals with renal and/or neurodevelopmental phenotypes. We evaluated HNF1B-related clinical features from 82 studies and reclassified 192 reported intragenic HNF1B variants. In a prenatal case, we identified a novel in-frame deletion p.(Gly239del) within the HNF1B DNA-binding domain, a mutational hot spot as demonstrated by spatial clustering analysis and high computational prediction scores. The six postnatally diagnosed individuals harbored 17q12 microdeletions. Literature screening revealed variable reporting of HNF1B-associated clinical traits. Overall, both mutation groups showed a high phenotypic heterogeneity. The reclassification of all previously reported intragenic HNF1B variants provided an up-to-date overview of the mutational spectrum. We highlight the value of prenatal HNF1B screening in renal developmental diseases. Standardized clinical reporting and systematic classification of HNF1B variants are necessary for a more accurate risk quantification of prenatal and postnatal clinical features, improving genetic counseling and prenatal decision making.
Substances chimiques
HNF1B protein, human
0
Hepatocyte Nuclear Factor 1-beta
138674-15-4
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1136-1147Informations de copyright
© 2019 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
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