A new mutation in the PAX2 gene in a Papillorenal Syndrome patient

Abstract Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormality. The syndrome causes mutations in the PAX2 gene, which plays a critical role in embryogenesis. Other related anomalies are less commonly observed. To our knowledge, ours is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features. Keywords: Renal coloboma syndrome; PAX2-related disorder; coloboma of optic nerve, multicystic dysplastic kidney; eye abnormalities Continuous...

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De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome

American Journal of Ophthalmology ◽

10.1016/j.ajo.2004.10.002 ◽

2005 ◽

Vol 139 (4) ◽

pp. 733-735 ◽

Cited By ~ 7

Author(s):

Keiko Yoshimura ◽

Shigeo Yoshida ◽

Yoko Yamaji ◽

Aiko Komori ◽

Ayako Yoshida ◽

...

Keyword(s):

Japanese Patient ◽

De Novo ◽

Papillorenal Syndrome ◽

Pax2 Gene

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Abstract #134: Immediate and Sustained Improvements in a Cushing’s Syndrome Patient with Primary Macronodular Adrenal Hyperplasia Treated with Mifepristone

Endocrine Practice ◽

10.1016/s1530-891x(20)44893-1 ◽

2016 ◽

Vol 22 ◽

pp. 19-20

Author(s):

Honey East ◽

Carlton Anderson ◽

Dat Nguyen

Keyword(s):

Syndrome Patient ◽

Adrenal Hyperplasia

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New mutation in TSC1-gene in a sporadic case with initially mild phenotype

Neuropediatrics ◽

10.1055/s-0032-1307090 ◽

2012 ◽

Vol 43 (02) ◽

Author(s):

C Thiels ◽

C Köhler ◽

K Weigt-Usinger ◽

C Sutter ◽

T Lücke

Keyword(s):

Sporadic Case ◽

New Mutation ◽

Mild Phenotype ◽

Tsc1 Gene

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A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

Journal of Pediatric Genetics ◽

10.1055/s-0040-1719161 ◽

2020 ◽

Author(s):

Hasan Akduman ◽

Dilek Dilli ◽

Serdar Ceylaner

Keyword(s):

Mutation Analysis ◽

Autosomal Recessive ◽

Glucose Transporter ◽

Neonatal Period ◽

Autosomal Recessive Disorder ◽

Homozygous Mutation ◽

New Mutation ◽

Early Neonatal Period ◽

Sodium Dependent ◽

Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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Computer modeling of the 3D structure of human cytochrome P450c21 in a young woman with late-onset AGS and a new mutation within the steroid-21-hydroxylase gene

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2005-862870 ◽

2005 ◽

Vol 113 (S 1) ◽

Author(s):

J Bojunga ◽

C Welsch ◽

M Albrecht ◽

I Antes ◽

T Lengauer ◽

...

Keyword(s):

Computer Modeling ◽

Young Woman ◽

Late Onset ◽

3D Structure ◽

New Mutation ◽

Hydroxylase Gene ◽

Human Cytochrome

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Insertion of Ear Implants in a Goldenhar's Syndrome Patient Using a Navigation System

Skull Base ◽

10.1055/s-2007-984036 ◽

2007 ◽

Vol 17 (S 1) ◽

Author(s):

Pit Voss ◽

Marc Metzger

Keyword(s):

Navigation System ◽

Syndrome Patient

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BIOSYNTHESIS OF CORTICOIDS AND ANDROGENS IN AN ADENOMA FROM A CUSHING'S SYNDROME PATIENT

Acta Endocrinologica ◽

10.1530/acta.0.0420187 ◽

1963 ◽

Vol 42 (2) ◽

pp. 187-194

Author(s):

Menek Goldstein ◽

Marcel Gut ◽

Ralph I. Dorfman ◽

Louis J. Soffer ◽

J. Lester Gabrilove

Keyword(s):

Cushing’S Syndrome ◽

Cushing’S Disease ◽

Cushing's Syndrome ◽

Cushing's Disease ◽

Syndrome Patient ◽

Adrenal Tissue

ABSTRACT Incubation of cholesterol-4-14C and pregnenolone-7-3H with a homogenate of adenomatous adrenal tissue from a patient with Cushing's disease yielded 14C and 3H labelled, cortisol, cortisone, 11-deoxycortisol, deoxycorticosterone, dehydroepiandrosterone, and 11β-hydroxy-androst-4-3,17-dione.

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