Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

Abstract

We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. © 2016 John Wiley & Sons, Ltd.

Prenatal diagnosis of HNF1B‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

“…Clissold and colleagues provided evidence for association of NDDs exclusively with 17q12 microdeletions but not with HNF1B intragenic variants . The predominant hypothesis for the neurodevelopmental phenotypes was haploinsufficiency of other genes encompassed by the deletion . Until recently, only single cases of NDDs in carriers of intragenic HNF1B variants had been reported .…”

“…Importantly, numerous studies reported neurodevelopmental disorders (NDDs) in individuals with 17q12 microdeletions (MIM #614527) containing HNF1B . Although NDDs were considered an exclusive feature of chromosome 17q12 microdeletion syndrome (17q12DS), there are recent reports also in individuals with intragenic HNF1B alterations …”

“…11 Importantly, numerous studies reported neurodevelopmental disorders (NDDs) in individuals with 17q12 microdeletions (MIM #614527) containing HNF1B. 10,[28][29][30][31][32][33] Although NDDs were considered an exclusive feature of chromosome 17q12 microdeletion syndrome (17q12DS), there are recent reports also in individuals with intragenic HNF1B alterations. 16,[34][35][36] In this study, we report on a series of seven individuals with intragenic HNF1B aberrations or 17q12DS and describe their renal and extra-renal phenotypes prenatally and in childhood or adult life.…”

Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta‐analysis

“…The 17q12 microdeletion, resulting in the 17q12 deletion syndrome (OMIM 614527), was the most frequently found CNV in this meta‐analysis (8/22). The 17q12 deletion syndrome is characterized by variable combinations of the three following characteristics: structural or functional abnormalities of the kidney and urinary tract, maturity‐onset diabetes of the young type 5, and neurologic phenotypes, such as autism spectrum disorder or schizophrenia . Microdeletions involving 17q12 have been described with solid evidence to be associated with renal abnormalities, and the gene HNF1B (OMIM 189907) within the affected region of 17q12 is responsible for the renal and urogenital abnormalities .…”

“…The 17q12 deletion syndrome is characterized by variable combinations of the three following characteristics: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5, and neurologic phenotypes, such as autism spectrum disorder or schizophrenia. 16 Microdeletions involving 17q12 have been described with solid evidence to be associated with renal abnormalities, and the gene HNF1B 10 The MYH11 (OMIM 160745) gene within the recurrent 16p13.11 deletion has been described as a candidate gene in a patient with renal hypodysplasia. 28 There have also been several reports of patients with renal anomalies with CNVs that span MYH11.…”