keyword
https://read.qxmd.com/read/33159882/bi-allelic-pathogenic-variants-in-hs2st1-cause-a-syndrome-characterized-by-developmental-delay-and-corpus-callosum-skeletal-and-renal-abnormalities
#1
Pauline E Schneeberger, Leonie von Elsner, Emma L Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra J G Zwijnenburg, Marjan M Weiss, Catherine L R Merry, Kerstin Kutsche
Heparan sulfate belongs to the group of glycosaminoglycans (GAGs), highly sulfated linear polysaccharides. Heparan sulfate 2-O-sulfotransferase 1 (HS2ST1) is one of several specialized enzymes required for heparan sulfate synthesis and catalyzes the transfer of the sulfate groups to the sugar moiety of heparan sulfate. We report bi-allelic pathogenic variants in HS2ST1 in four individuals from three unrelated families. Affected individuals showed facial dysmorphism with coarse face, upslanted palpebral fissures, broad nasal tip, and wide mouth, developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and uni- or bilateral renal agenesis in three individuals...
November 3, 2020: American Journal of Human Genetics
https://read.qxmd.com/read/33120852/eight-rare-urinary-disorders-in-a-patient-with-kallmann-syndrome-a-case-report
#2
Huining Tian, Zi Yan, You Lv, Lin Sun, Xiaokun Gang, Guixia Wang
RATIONALE: Kallmann syndrome (KS) is a rare inherited genetic disorder characterized by hypogonadotropic hypogonadism and hyposmia/anosmia. Early diagnosis is the key to timely treatment and improvement of prognosis in patients with KS. As the most common complication of KS, renal agenesis can provide clues to early diagnosis and treatment for KS. In this article, we report a case of KS with 8 rare urinary disorders for the first time. PATIENT CONCERNS: A 19-year-old Chinese man presented with 8 rare urinary disorders and a history of bilateral cryptorchidism came to us for micropenis, hyposmia, and delayed puberty...
October 23, 2020: Medicine (Baltimore)
https://read.qxmd.com/read/33020172/biallelic-pathogenic-gfra1-variants-cause-autosomal-recessive-bilateral-renal-agenesis
#3
Veronica Arora, Suliman Khan, Ayman W El-Hattab, Ratna Dua Puri, Maria Eugenia Rocha, Rijad Merdzanic, Omid Paknia, Christian Beetz, Arndt Rolfs, Aida M Bertoli-Avella, Peter Bauer, Ishwar C Verma
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis (BRA) represents the most severe and fatal form of CAKUT. Only three genes have been confirmed to have a causal role in humans ( ITGA8 , GREB1L , and FGF20 ). METHODS: Genome sequencing within a diagnostic setting and combined data repository analysis identified a novel gene. RESULTS: Two patients presented with BRA, detected during the prenatal period, without additional recognizable malformations...
October 5, 2020: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/32934853/an-adolescent-with-a-rare-de-novo-distal-trisomy-6p-and-distal-monosomy-6q-chromosomal-combination
#4
Leia A Peterman, Gail H Vance, Erin E Conboy, Katelynn Anderson, David D Weaver
We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb). This chromosomal abnormality is also described as distal trisomy 6p and distal monosomy 6q. The patient has a Chiari II malformation, hydrocephalus, agenesis of the corpus callosum, microcephaly, bilateral renal duplicated collecting system, scoliosis, and myelomeningocele associated with a neurogenic bladder and bladder reflux...
2020: Case Reports in Genetics
https://read.qxmd.com/read/32793867/serial-amnioinfusion-as-regenerative-therapy-for-pulmonary-hypoplasia-in-fetuses-with-intrauterine-renal-failure-or-severe-renal-anomalies-systematic-review-and-future-perspectives
#5
Simrit K Warring, Victoria Novoa, Sherif Shazly, Mari Charisse Trinidad, David J Sas, Brenda Schiltz, Mikel Prieto, Andre Terzic, Rodrigo Ruano
The aim of this study was to investigate the effect of serial amnioinfusion therapy (SAT) for pulmonary hypoplasia in lower urinary tract obstruction (LUTO) or congenital renal anomalies (CRAs), introduce patient selection criteria, and present a case of SAT in bilateral renal agenesis. We conducted a search of the MEDLINE, EMBASE, Web of Science, and Scopus databases for articles published from database inception to November 10, 2017. Eight studies with 17 patients (7 LUTO, 8 CRA, and 2 LUTO + CRA) were included in the study...
August 2020: Mayo Clinic Proceedings. Innovations, Quality & Outcomes
https://read.qxmd.com/read/32765161/kidney-and-inferior-vena-cava-abnormalities-with-leg-thromboses-kilt-syndrome-a-case-report-and-literature-review
#6
Prita Rughani, Frances Yeung, Camilla Raya Halgren, Michaela Cada, Sarah Schwartz
Venous thromboembolism (VTE) is now increasingly recognized within paediatrics. A Canadian VTE registry has estimated the incidence as 0.7 to 1.0 per 100,000 population, with a peak in infancy and adolescence. Congenital inferior vena cava agenesis (IVCA) is an important risk factor that may be unfamiliar to paediatricians. Several case reports have since described an association between IVCA, VTE, and renal hypoplasia, which has been referred to as KILT syndrome (Kidney and IVC abnormalities with Leg Thromboses)...
August 2020: Paediatrics & Child Health
https://read.qxmd.com/read/32753399/nephron-progenitor-maintenance-is-controlled-through-fibroblast-growth-factors-and-sprouty1-interaction
#7
Sung-Ho Huh, Ligyeom Ha, Hee-Seong Jang
BACKGROUND: Nephron progenitor cells (NPCs) give rise to all segments of functional nephrons and are of great interest due to their potential as a source for novel treatment strategies for kidney disease. Fibroblast growth factor (FGF) signaling plays pivotal roles in generating and maintaining NPCs during kidney development, but little is known about the molecule(s) regulating FGF signaling during nephron development. Sprouty 1 (SPRY1) is an antagonist of receptor tyrosine kinases. Although SPRY1 antagonizes Ret-GDNF signaling, which modulates renal branching, its role in NPCs is not known...
August 4, 2020: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/32734212/precision-medicine-diagnostics-for-rare-kidney-disease-twitter-as-a-tool-in-clinical-genomic-translation
#8
Andrew J Mallett, Catherine Quinlan, Chirag Patel, Lindsay Fowles, Joanna Crawford, Michael Gattas, Richard Baer, Bruce Bennetts, Gladys Ho, Katherine Holman, Cas Simons
New technologies such as genomics present opportunities to deliver precision medicine, including in the diagnosis of rare kidney disorders. Simultaneously, social media platforms such as Twitter can provide rapid and wide-reaching information dissemination in health care and science. We present 2 cases in which the reporting of a novel genetic cause for human kidney disease was communicated through Twitter and then subsequently noted by treating clinicians, thereby resulting in rapid clinical diagnostic translation...
September 2019: Kidney medicine
https://read.qxmd.com/read/32643034/novel-loss-of-function-variants-in-fras1-and-frem2-underlie-renal-agenesis-in-consanguineous-families
#9
Mohamed H Al-Hamed, John A Sayer, Nada Alsahan, Maha Tulbah, Wesam Kurdi, Qamariya Ambusaidi, Wafaa Ali, Faiqa Imtiaz
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are diagnosed prenatally by ultrasound scanning or found incidentally in postnatal life. CAKUT varies in severity and may lead to life-threatening kidney failure and end-stage kidney disease. Renal agenesis, a severe form of CAKUT, is a congenital absence of one or both kidneys...
July 8, 2020: Journal of Nephrology
https://read.qxmd.com/read/32533284/prenatal-ultrasound-diagnosis-of-duplication-gallbladder-a-multicenter-study
#10
Lavinia Di Meglio, Paolo Toscano, Gabriele Saccone, Letizia Di Meglio, Laura Letizia Mazzarelli, Fabrizio Zullo, Antonio Raffone, Antonio Travaglino, Mariavittoria Locci, Aniello Di Meglio
BACKGROUND: Gallbladder duplication is a rare anatomic anomaly characterized by the presence of an accessory gallbladder. OBJECTIVE: To appraise the prevalence and significance of prenatal diagnosis of duplication of gallbladder in a multicenter study. METHODS: This was a multicenter case series with literature review. Clinical records of all consecutive pregnant women with a prenatal diagnosis of duplication of gallbladder, who were referred to our Centers were included in this study...
June 12, 2020: Archives of Gynecology and Obstetrics
https://read.qxmd.com/read/32516788/contemporary-outcomes-of-patients-with-isolated-bilateral-renal-agenesis-with-and-without-fetal-intervention
#11
Stefanie Riddle, Mounira Habli, Sammy Tabbah, Foong Yen Lim, Melissa Minges, Paul Kingma, William Polzin
INTRODUCTION: Bilateral renal agenesis (BRA) is a lethal diagnosis, specifically meaning that natural survival beyond birth is not expected secondary to pulmonary hypoplasia. Limited contemporary data are available about intervention and the impact of restoring amniotic fluid volume in relation to the risk for lethal pulmonary hypoplasia and other factors that might influence survival in cases of fetal BRA. OBJECTIVE: We report the largest series of patients undergoing fetal intervention and postnatal care for BRA at a single comprehensive fetal center...
June 9, 2020: Fetal Diagnosis and Therapy
https://read.qxmd.com/read/32472223/-aphallia-report-of-two-cases
#12
P Hagelschuer, B Mack-Detlefsen, E Korsch, A Ekamp, T M Boemers
Aphallia is an extremely rare congenital malformation of unknown cause. The incidence is reported in the literature to be 1 in 10-30 million live births. Almost 100 cases have been described to date. Aphallia is associated with other congenital malformations (in particular urogenital and gastrointestinal anomalies) in >50% of cases. The diagnosis is made clinically and shows the complete absence of the corpora cavernosa and the corpus spongiosum with a urethral opening along the perineal midline (most frequently ventral to the anus and in the ventral rectal wall)...
May 29, 2020: Der Urologe. Ausg. A
https://read.qxmd.com/read/32378186/greb1l-variants-in-familial-and-sporadic-hereditary-urogenital-adysplasia-and-mayer-rokitansky-kuster-hauser-syndrome
#13
Jacquinet Adeline, Boujemla Bouchra, Fasquelle Corinne, Thiry Jerôme, Josse Claire, Lumaka Aimé, Brischoux-Boucher Elise, Dubourg Christèle, David Véronique, Pasquier Laurent, Lehman Anna, Morcel Karine, Guerrier Daniel, Bours Vincent
Congenital uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome. To date, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole-exome sequencing in nine multiplex families with recurrence of uterine and kidney malformations, a condition called hereditary urogenital adysplasia...
May 7, 2020: Clinical Genetics
https://read.qxmd.com/read/32161024/first-korean-case-of-coffin-siris-syndrome-with-a-novel-frameshift-arid1b-mutation
#14
Bo Lyun Lee, Seung Hwan Oh, Kyung Ran Jun, Yun Jung Hur, Jeong Eun Lee, Changwon Keum, Woo Yeong Chung
Coffin-Siris Syndrome (CSS) is a rare neurodevelopmental disorder characterized by intellectual disability, coarse facial features, hypoplastic digits/nails, and hypertrichosis. The genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene sites. While ARID1B mutations account for a third of all CSS cases, the condition's phenotypic features vary widely. We document the case of a girl with CSS who presented with a variant facial appearance, global developmental delay with speech impairment, agenesis of the corpus callosum, funnel chest, and bilateral renal stones without hypertrichosis or hypoplasia of the fifth fingernail...
January 2020: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/32003482/etiology-and-management-of-early-pregnancy-renal-anhydramnios-is-there-a-place-for-serial-amnioinfusions
#15
REVIEW
Angie C Jelin, Katelynn G Sagaser, Katherine R Forster, Tochi Ibekwe, Mary E Norton, Eric B Jelin
Early pregnancy renal anhydramios (EPRA) comprises congenital renal disease that results in fetal anhydramnios by 22 weeks of gestation. It occurs in over 1 in 2000 pregnancies and affects 1500 families in the US annually. EPRA was historically considered universally fatal due to associated pulmonary hypoplasia and neonatal respiratory failure. There are several etiologies of fetal renal failure that result in EPRA including bilateral renal agenesis, cystic kidney disease, and lower urinary tract obstruction...
January 31, 2020: Prenatal Diagnosis
https://read.qxmd.com/read/31982235/fraser-syndrome-review-of-the-literature-illustrated-by-a-historical-adult-case
#16
REVIEW
J Bouaoud, M Olivetto, S Testelin, S Dakpe, J Bettoni, B Devauchelle
Fraser syndrome (cryptophthalmos-syndactyly syndrome) is a rare autosomal recessive malformation disorder. The first description of the syndrome was reported by George Fraser in 1962. Diagnosis is based on the major and minor criteria established by van Haelst et al. in 2007. Unilateral or bilateral cryptophthalmos, syndactyly, unilateral renal agenesis, and genital anomalies are the most frequent anomalies. Several maxillofacial, oro-dental, ear-nose-throat, hormonal, and anorectal disorders are reported. Cardiac malformations and musculoskeletal anomalies are uncommon...
January 22, 2020: International Journal of Oral and Maxillofacial Surgery
https://read.qxmd.com/read/31966034/optic-nerve-hypoplasia-corpus-callosum-agenesis-cataract-and-lissencephaly-in-a-neonate-with-a-novel-col4a1-mutation
#17
Lisa Grego, Silvia Pignatto, Nicolò Rassu, Eva Passone, Paola Cogo, Paolo Lanzetta
We report the case of a girl with a novel mutation of the COL4A gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. COL4A1 , located on chromosome 13, encodes the α1 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Different mutations have been described and may remain asymptomatic or determine porencephaly, cerebral hemorrhages, renal cysts, hematuria, and dysgenesis of the anterior segment of the eye...
September 2019: Case Reports in Ophthalmology
https://read.qxmd.com/read/31923588/fraser-syndrome-without-cryptophthalmos-two-cases
#18
S Boussion, S Lyonnet, B Van Der Zwaag, M J Vogel, T Smol, A Mezel, S Manouvrier-Hanu, C Vincent-Delorme, C Vanlerberghe
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous or compound heterozygous mutations in the FRAS/FREM complex genes: FRAS1, FREM2 and GRIP1. Here we report two atypical cases of Fraser syndrome due to mutations in the FRAS1 gene without cryptophthalmos. The first proband had syndactyly of three extremities, bilateral nostril coloboma, dysplastic ears with bilateral conductive hearing loss, blepharophimosis and lacrimal duct abnormalities...
January 7, 2020: European Journal of Medical Genetics
https://read.qxmd.com/read/31900751/birth-prevalence-of-congenital-anomalies-in-the-city-of-buenos-aires-argentina-according-to-socioeconomic-level
#19
Ruben Bronberg, Boris Groisman, Maria Paz Bidondo, Pablo Barbero, Rosa Liascovich
The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source of data was the National Network of Congenital Anomalies of Argentina (RENAC) (period 2010-2016). From a total of 228,208 births, 4872 newborns with CA were detected (2.14%). The prevalence in PRI-N, PUB-N, PRI-S, and PUB-S hospitals were 1...
January 3, 2020: Journal of Community Genetics
https://read.qxmd.com/read/31840946/smith-lemli-opitz-syndrome-fetal-phenotypes-with-special-reference-to-the-syndrome-specific-internal-malformation-pattern
#20
Katharina Schoner, Martina Witsch-Baumgartner, Jana Behunova, Robert Petrovic, Rainer Bald, Susanne G Kircher, Annette Ramaswamy, Britta Kluge, Matthias Meyer-Wittkopf, Ralf Schmitz, Barbara Fritz, Johannes Zschocke, Franco Laccone, Helga Rehder
Autosomal-recessive SLOS is caused by mutations in the DHCR7 gene. It is defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis is often missed at prenatal ultrasound and fetal autopsy METHODS: We performed autopsies and DHCR7 gene analyses in eight fetuses suspected of having SLOS and measured cholesterol values in long-term formalin-fixed tissues of an additional museum exhibit RESULTS: Five of the nine fetuses presented classical features of SLOS, including four cases with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy-Walker cyst...
December 16, 2019: Birth Defects Research
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