Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

2011 ◽  
Vol 33 (1) ◽  
pp. 86-90 ◽  
Author(s):  
Marine R.-C. Kraus ◽  
Séverine Clauin ◽  
Yvan Pfister ◽  
Massimo Di Maïo ◽  
Tim Ulinski ◽  
...  
Keyword(s):  
Wnt Pathway ◽  
Renal Dysplasia ◽  
Cystic Renal Dysplasia

scholarly journals A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs

PLoS ONE ◽  
2018 ◽  
Vol 13 (9) ◽  
pp. e0204073 ◽  
Author(s):  
Kati J. Dillard ◽  
Marjo K. Hytönen ◽  
Daniel Fischer ◽  
Kimmo Tanhuanpää ◽  
Mari S. Lehti ◽  
...  
Keyword(s):  
Hepatic Fibrosis ◽  
Splice Site ◽  
Renal Dysplasia ◽  
Cystic Renal Dysplasia ◽  
Splice Site Variant

Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants

2019 ◽  
Vol 23 (3) ◽  
pp. 235-239
Author(s):  
Sakil Kulkarni ◽  
Brooj Abro ◽  
Maria Laura Duque Lasio ◽  
Janis Stoll ◽  
Dorothy K Grange ◽  
...  
Keyword(s):  
Cardiac Failure ◽  
Renal Dysplasia ◽  
Cardiomyocyte Hypertrophy ◽  
Compound Heterozygous ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Genes Encoding ◽  
Cystic Renal Dysplasia ◽  
Cystic Renal Disease ◽  
Compound Heterozygous Variants

We report a term female infant born to nonconsanguineous parents who presented with renal failure at birth, hypothyroidism, cholestasis, and progressive cardiac dysfunction. Multigene next-generation sequencing panels for cholestasis, cardiomyopathy, and cystic renal disease did not reveal a unifying diagnosis. Whole exome sequencing revealed compound heterozygous pathogenic variants in ANKS6 (Ankyrin Repeat and Sterile Alpha Motif Domain Containing 6), which encodes a protein that interacts with other proteins of the Inv compartment of cilium ( NEK8, NPHP2/INVS, and NPHP3). ANKS6 has been shown to be important for early renal development and cardiac looping in animal models. Autopsy revealed cystic renal dysplasia and cardiomyocyte hypertrophy, disarray, and focal necrosis. Liver histology revealed cholestasis and centrilobular necrosis, which was likely a result of progressive cardiac failure. This is the first report of compound heterozygous variants in ANKS6 leading to a nephronopthisis-related ciliopathy-like phenotype. We conclude that pathogenic variants in ANKS6 may present early in life with severe renal and cardiac failure, similar to subjects with variants in genes encoding other proteins in the Inv compartment of the cilium.

Variation in Major Pulmonary Fissures: Incidence in Fetal Postmortem Examinations and a Review of Significant Extrapulmonary Structural Abnormalities in Sixty Cases

1998 ◽  
Vol 1 (4) ◽  
pp. 289-294 ◽  
Author(s):  
A.W. Bates
Keyword(s):  
Pulmonary Hypoplasia ◽  
Chromosomal Abnormalities ◽  
Renal Dysplasia ◽  
Situs Inversus Totalis ◽  
Postmortem Examination ◽  
Structural Abnormalities ◽  
Appropriate For Gestational Age ◽  
Cystic Renal Dysplasia ◽  
Left Right Asymmetry ◽  
Postmortem Examinations

A retrospective study of 1513 fetal postmortem examination reports from 1967 to 1996 yielded 35 cases with anomalous major pulmonary fissures (2.3%), to which a further 25 cases were added from fetal postmortem examinations performed between 1929 and 1966. Of 60 cases with anomalous fissures, 43 had an absent right horizontal fissure and 8 had a supernumerary left horizontal fissure; the remaining 9 showed various patterns in which one lung lacked major fissures. Histological examination in 29 cases did not reveal any additional pulmonary abnormality and pulmonary maturity was appropriate for gestational age. Additional malformations were present in 40 cases and these were frequently multiple, the most common being central nervous system, cardiovascular, and genitourinary system defects; notable heart malformations (10 cases); hydrocephalus (5 cases); and cystic renal dysplasia (4 cases). Chromosomal abnormalities were demonstrated in six cases although this figure does not reflect their prevalence, as many cases predate the availability of karyotyping. In seven cases, including three with polysplenia syndrome and one with situs inversus totalis, there was evidence of an underlying abnormality of left–right asymmetry, and in 13 cases there was documented pulmonary hypoplasia.

Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach

2012 ◽  
Vol 15 (1) ◽  
pp. 50-57 ◽  
Author(s):  
Katharina Schoner ◽  
Barbara Fritz ◽  
Georg Huelskamp ◽  
Frank Louwen ◽  
Martin Zenker ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Later Life ◽  
Renal Dysplasia ◽  
Urethral Obstruction ◽  
Triplet Pregnancy ◽  
Gene Testing ◽  
Truncating Mutation ◽  
Eosinophilic Granulocytes ◽  
Gestational Week ◽  
Cystic Renal Dysplasia

We report on a triplet pregnancy of consanguineous parents with one fetus being affected by recurrent Johanson-Blizzard syndrome (JBS). At autopsy in the 35th gestational week, the affected triplet presented with an especially severe and lethal manifestation of the disorder as compared to his elder affected brother and to cases in the literature, thus exemplifying great interfamilial and intrafamilial phenotypic variability. Arhinencephaly and cystic renal dysplasia associated with urethral obstruction sequence were features not described previously in the literature. In addition to the lack of exocrine acini as the characteristic feature of JBS, the pancreas revealed a resorptive inflammatory reaction with infiltration by eosinophilic granulocytes that focally dispersed onto islets of Langerhans, thus favoring a progressive destructive rather than primary dysplastic process and possibly explaining the occurrence of diabetes mellitus in later life. JBS maps to chromosome 15q15-q21.1 and is associated with mutations in the UBR1 gene. Testing the fetus and the affected sibling revealed a homozygous truncating mutation in UBR1. The resulting absence of the UBR1 protein was confirmed by Western blot. Immunohistochemical staining using a commercial anti-UBR1 antibody demonstrated staining, presumably artifactual. This finding suggests that, until an appropriately validated antibody has been identified, this modality should not be utilized for diagnosis or confirmation of this disorder.

scholarly journals Fetal Magnetic Resonance Imaging of Bilateral Cystic Renal Dysplasia

2008 ◽  
Vol 47 (3) ◽  
pp. 360-362 ◽  
Author(s):  
K. Emre Karaşahin ◽  
M. Coşan Terek ◽  
Kazim Gezginç ◽  
Hüseyin Aksoy ◽  
Mustafa Ulubay ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Renal Dysplasia ◽  
Resonance Imaging ◽  
Fetal Magnetic Resonance Imaging ◽  
Cystic Renal Dysplasia

scholarly journals Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia

2012 ◽  
Vol 28 (1) ◽  
pp. 227-232 ◽  
Author(s):  
R. Schild ◽  
T. Knuppel ◽  
M. Konrad ◽  
C. Bergmann ◽  
A. Trautmann ◽  
...  
Keyword(s):  
Renal Dysplasia ◽  
Missense Mutations ◽  
Cystic Renal Dysplasia
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