scholarly journals Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome

2016 ◽  
Vol 19 (2) ◽  
pp. 91-94
Author(s):  
L Spahiu ◽  
B Merovci ◽  
V Ismaili Jaha ◽  
A Batalli Këpuska ◽  
H Jashari
Keyword(s):  
Novel Mutation ◽  
Abdominal Ultrasound ◽  
External Ear ◽  
Autosomal Dominant Disorder ◽  
Daily Hemodialysis ◽  
Bor Syndrome ◽  
Severe Renal Insufficiency ◽  
Renal Malformations ◽  
Ear Anomalies ◽  
End Stage

AbstractBranchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial fistulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 µmol/L; low glomerular filtration rate (GFR) 12 mL/min./ 1.73 m2 and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was confirmed. Daily hemodialysis is continuing until renal transplantation is done. This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial fistula and/ or external ear anomalies or similar findings in other family members.

The branchio-oto-renal syndrome

1988 ◽  
Vol 102 (2) ◽  
pp. 138-141 ◽  
Author(s):  
M. Raspino ◽  
V. Tarantino ◽  
L. Moni ◽  
E. Verrina ◽  
M. R. Ciardi ◽  
...  
Keyword(s):  
Renal Insufficiency ◽  
Early Life ◽  
Autosomal Dominant ◽  
Renal Dysplasia ◽  
Autosomal Dominant Disorder ◽  
Renal Anomalies ◽  
Bor Syndrome ◽  
Severe Renal Insufficiency ◽  
Ear Anomalies ◽  
Renal Abnormalities

SummaryThe major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, deafness and renal dysplasia.We report two family groups affected by the BOR syndrome: in two-thirds of the affected children renal abnormalities led to severe renal insufficiency in early life. The necessity for a meticulous search for renal anomalies in individuals with aural and/or branchial abnormalities is emphasized. In affected families, genetic counselling is suggested.

scholarly journals Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children

2020 ◽  
Vol 2020 (1) ◽  
Author(s):  
Salwa A. Musa ◽  
Areej A. Ibrahim ◽  
Samar S. Hassan ◽  
Matthew B Johnson ◽  
Asmahan T. Basheer ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Novel Mutation ◽  
Wide Spectrum ◽  
Rare Condition ◽  
Neonatal Diabetes ◽  
Abdominal Ultrasound ◽  
Sub Saharan Africa ◽  
High Rate ◽  
Genetic Characteristics ◽  
Sub Saharan

Abstract Background Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate. Patients & methods Eleven patients from ten unrelated Sudanese families were included. Clinical & biochemical data were documented and imaging studies done including bone survey and abdominal ultrasound. Liver biopsy was done to confirm the pathological diagnosis in 45% of cases and molecular genetics was performed through contribution with the Exeter genomics laboratory for ten patients. Results Reported consanguinity was 70% among our patients. Growth was significantly impaired at presentation with mean weights of (-5.3 ± 1.8) SD and heights (-5.4 ± 2.5) SD. Severe chest deformity was present in (27%) and all patients showed features of rickets at presentation. Three patients had neonatal diabetes requiring insulin therapy of which one has been reported before. Six families lost undiagnosed siblings with similar clinical presentations. We identified a total of four homozygous pathogenic SLC2A2 variants in our patients, one of whom had a novel mutation. Conclusions FBS is not uncommon in Sudan where there is a high rate of consanguinity. Many cases are likely missed because of variable presentation and lack of public and professionals’ awareness. This is the first series to describe this condition from Sub-Saharan Africa.

scholarly journals Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

2020 ◽  
Author(s):  
xiaoqing li ◽  
fei han ◽  
qianlong chen ◽  
tienan zhu ◽  
yongqiang zhao ◽  
...  
Keyword(s):  
Biosynthetic Pathway ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Novel Mutation ◽  
Acute Intermittent Porphyria ◽  
Porphobilinogen Deaminase ◽  
Autosomal Dominant Disorder ◽  
Splenial Lesion ◽  
Partial Deficiency ◽  
Reversible Splenial Lesion Syndrome

Abstract Background: Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopathy (MERS) with a reversible splenial lesion remains the most common cause of reversible splenial lesions. Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Result: In this study, we report a 20-year-old woman with AIP who presented with MRI manifestations suggestive of RESLES, she had a novel HMBS nonsense mutation, a G to A mutation in base 594, which changed tryptophan to a stop codon (W198*). Conclusion: To the best of our knowledge, this is only one published case of RELES associated with AIP.

scholarly journals Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Guan-nan He ◽  
Xue-yan Wang ◽  
Min Kang ◽  
Xi-min Chen ◽  
Na Xi ◽  
...  
Keyword(s):  
Septal Defect ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Splice Donor ◽  
Autosomal Dominant Disorder ◽  
Cubitus Valgus ◽  
Case Presentation ◽  
Whole Exome ◽  
The Right ◽  
Tbx5 Gene

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China.Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.

scholarly journals Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

2008 ◽  
Vol 52 (8) ◽  
pp. 1272-1276 ◽  
Author(s):  
Maria Edna de Melo ◽  
Suemi Marui ◽  
Vinícius Nahime de Brito ◽  
Marcio Corrêa Mancini ◽  
Berenice B. Mendonca ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Sequencing Analysis ◽  
The Novel ◽  
Autosomal Dominant Disorder ◽  
Vasopressin Gene ◽  
Avp Gene

Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). More than 50 mutations causing adFNDI have been already reported in the AVP gene. The aim of the present study is to analyze the AVP gene in four generations of one Brazilian kindred with adFNDI. The proband was a 31-year old female with huge hypotonic polyuria (10 L/day) dated from childhood. Molecular analysis included amplification of all exons and exon-intron regions of the AVP gene by PCR and direct sequencing. Sequencing analysis showed a novel point mutation in heterozygous: G88V (GGC>GTC). All affected patients presented the same mutation also in heterozygous, while it was absent in four normal members. We expand the repertoire of mutations in AVP describing the novel G88V mutation in one Brazilian kindred with adFNDI.

Pharmacokinetics of Intravenous and Intraperitoneal Cefotaxime in Patients Undergoing CAPD

1985 ◽  
Vol 5 (1) ◽  
pp. 33-35 ◽  
Author(s):  
Karel Matousovic ◽  
Josef Moravek Stefan ◽  
Vitko Vladimir Prat ◽  
Milena Horcickova
Keyword(s):  
Renal Function ◽  
Renal Insufficiency ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Peritoneal Membrane ◽  
Severe Renal Insufficiency ◽  
Elimination Half ◽  
Stage Renal Disease ◽  
End Stage ◽  
Dialysis Solutions

We investigated the pharmacokinetics of non-metabolized cefotaxime in 10 patients undergoing CAPD. The elimination half-life after IV administration of I g cefotaxime was 3.1 ± 1.3 hr, i.e. two to three times longer than in individuals with normal renal function but similar to patients with severe renal insufficiency. An average of 2.18% of the dose was recovered in the effluent. The halflife of I g cefotaxime administered in the dialysis solutions was 1.4 ± 0.8 hr. This difference between the half-lives after intraperitoneal and intravenous administration indicates a faster transport through the peritoneal membrane. Intraperitoneally administered cefotaxime -250 mg four times daily, was effective in the treatment of peritonitis in three CAPD patients. Since its introduction in 1976, CAPD has become an effective therapy for end-stage renal disease. The most serious complication is peritonitis and effective treatment is essential. Cefotaxime, a new broad-spectrurn cephalosporin, is active against most gramnegative and gram-positive organisms. It possesses no nephrotoxicity and may be useful in the treatment of peritonitis and other infections in patients on CAPD. This study was done to evaluate the pharmacokinetics of cefotaxime administered intravenously and intraperitoneally during CAPD.

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome

2005 ◽  
Vol 69 (8) ◽  
pp. 1123-1128 ◽  
Author(s):  
Sung Hee Kim ◽  
Jong-Hun Shin ◽  
Chang-Ki Yeo ◽  
Soon Hee Chang ◽  
Su-Yon Park ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Korean Family ◽  
Bor Syndrome

scholarly journals A Novel Mutation ofSMAD3Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Wenwen Zhang ◽  
Min Zhou ◽  
Cheng Liu ◽  
Chen Liu ◽  
Tong Qiao ◽  
...  
Keyword(s):  
Signal Transduction ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phenotype Correlation ◽  
Autosomal Dominant Disorder ◽  
Arterial Tree ◽  
Craniofacial Features

Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations inSMAD3, a key regulator of TGF-βsignal transduction, contribute to AOS. Here, we investigated a family of three generations affected by AOS. A novelSMAD3mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family. Our finding expands the mutation spectrum ofSMAD3gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype andSMAD3mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.

scholarly journals A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Jingxia Zeng ◽  
Jing Hao ◽  
Wei Zhou ◽  
Zhaoqun Zhou ◽  
Hongjun Miao
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Retrograde Transport ◽  
Immunosuppressive Drugs ◽  
Kidney Disorder ◽  
Autosomal Dominant Disorder ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Copa Syndrome

COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first COPA case of an 11-year-old boy with c.841C>T, p.R281W mutation. The arginine at position 281 was located in a highly evolutionary-conserved region. Immunosuppressive drugs and corticosteroids might not improve the long-term outcome of COPA patients. For patients with pulmonary disease, polyarthritis and/or kidney disorder, and suspected of COPA, genetic analysis should be conducted promptly for early diagnosis.

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