journal
MENU ▼
Read by QxMD icon Read
search

Case Reports in Genetics

journal
https://www.readbyqxmd.com/read/28523196/neoplasia-in-cri-du-chat-syndrome-from-italian-and-german-databases
#1
Andrea Guala, Marianna Spunton, Silvia Kalantari, Ingo Kennerknecht, Cesare Danesino
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28487785/pathogenic-variant-in-actb-p-arg183trp-causes-juvenile-onset-dystonia-hearing-loss-and-developmental-delay-without-midline-malformation
#2
Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W Klee, Pavel Pichurin
ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28487784/respiratory-failure-due-to-severe-obesity-and-kyphoscoliosis-in-a-24-year-old-male-with-molecularly-confirmed-prader-willi-syndrome-in-tertiary-hospital-in-northern-tanzania
#3
Elichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, Kajiru Kilonzo, Ben C J Hamel
Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28465847/prenatal-diagnosis-of-a-2-5%C3%A2-mb-de-novo-17q24-1q24-2-deletion-encompassing-kpna2-and-psmd12-genes-in-a-fetus-with-craniofacial-dysmorphism-equinovarus-feet-and-syndactyly
#4
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28392951/three-novel-mutations-in-the-nphs1-gene-in-vietnamese-patients-with-congenital-nephrotic-syndrome
#5
Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen
Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients. In this study, we report the first mutational analysis of the NPHS1 gene in three unrelated children from three different Vietnamese families...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28377826/goldenhar-syndrome-with-dextrocardia-and-right-pulmonary-hypoplasia-an-unusual-association
#6
Nagendra Chaudhary, Sandeep Shrestha, Hemant Kumar Halwai
Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28261508/urea-cycle-defects-early-onset-disease-associated-with-a208t-mutation-in-otc-gene-expanding-the-clinical-phenotype
#7
Ana Isabel Sánchez, Alejandra Rincón, Mary García, Fernando Suárez-Obando
Ornithine transcarbamylase deficiency (OMIM: 311250) is the most common disorder of urea cycle disorders, accounting for nearly 50% of all cases. We report a case of a two-month- old male patient, who attends our medical genetics consultation because of low citrulline levels and elevated glutamine to citrulline ratio detected by expanded newborn screening with tandem mass spectrometry. He is an asymptomatic male with a normal physical examination and appropriate neurodevelopmental milestones. The patient has a family history of one older brother who died at 18 months old from severe and sudden hyperammonemia and a maternal aunt who suddenly died at two years old...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28255477/a-newborn-with-panhypopituitarism-and-seizures
#8
Trupti Kale, Rachit Patil, Ramesh Pandit
Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28203467/costello-syndrome-and-umbilical-ligament-rhabdomyosarcoma-in-two-pediatric-patients-case-reports-and-review-of-the-literature
#9
Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez
Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. A review of the literature published in English in MEDLINE from January 1971 to June 2016 using the search terms "Costello syndrome" and "rhabdomyosarcoma" was performed, including two new cases that we describe. Twenty-six patients with Costello syndrome and rhabdomyosarcoma were recorded with mean age of diagnosis of 2 years and 8 months...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28163942/further-evidence-that-the-cftr-variant-c-2620-6t-c-is-benign
#10
Violet I Wallerstein, Robert Wallerstein
The c.2620-6T>C variant in the CFTR gene is a rare variant about which little is known. We present an asymptomatic adult who has this variant as well as the well described delta F508 pathogenic variant in transpresentation. This patient provides additional evidence that this is a benign polymorphism.
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28163941/novel-pathogenic-variant-in-tgfbr2-confirmed-by-molecular-modeling-is-a-rare-cause-of-loeys-dietz-syndrome
#11
Michael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, Margot A Cousin, Nicole J Boczek, Eric W Klee, Colleen Macmurdo, Paldeep S Atwal
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28133555/familial-case-of-pelizaeus-merzbacher-disorder-detected-by-oligoarray-comparative-genomic-hybridization-genotype-to-phenotype-diagnosis
#12
Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad
Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28053794/an-interstitial-deletion-at-7q33-36-1-in-a-patient-with-intellectual-disability-significant-language-delay-and-severe-microcephaly
#13
Trupti Kale, Melissa Philip
Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27610251/ring-chromosome-4-in-a-child-with-multiple-congenital-abnormalities-a-case-report-and-review-of-the-literature
#14
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27375909/adult-prader-willi-syndrome-an-update-on-management
#15
Luk Ho-Ming
With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27239352/multiple-coronary-artery-microfistulas-in-a-girl-with-kleefstra-syndrome
#16
Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I Zafeiriou
Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27195159/whole-exome-sequencing-leading-to-the-diagnosis-of-dysferlinopathy-with-a-novel-missense-mutation-c-959g-c
#17
Abhisek Swaika, Nicole J Boczek, Neha Sood, Kimberly Guthrie, Eric W Klee, Ankit Agrawal, Elliot L Dimberg, Sikander Ailawadhi
Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014). Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and requires a high clinical suspicion for early intervention to prolong survival. Amyloid myopathy is typically associated with other systemic manifestations of amyloidosis, but rare cases of isolated amyloid myopathy have been described (Mandl et al...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27123349/novel-gla-deletion-in-a-cypriot-female-presenting-with-cornea-verticillata
#18
Theodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, Elena Spanou-Aristidou, Isavella Savva, Theodoros Christodoulides, Maria Krasia, Violetta Christophidou-Anastasiadou, Carolina Sismani, Anthi Drousiotou, George A Tanteles
Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascular systems, kidneys, and heart. Heterozygous females typically exhibit milder symptoms and a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27069701/early-infantile-epileptic-encephalopathy-in-an-stxbp1-patient-with-lactic-acidemia-and-normal-mitochondrial-respiratory-chain-function
#19
Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J Falk, Hakon Hakonarson
A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders. STXBP1 mutations have recently been associated with mitochondrial pathology, although it remains unclear if this phenotype is a part of the core feature for this gene disorder. We report a 7-year-old boy who presented for diagnostic evaluation of intractable epilepsy, episodic ataxia, resting tremor, and speech regression following a period of apparently normal early development...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/26998368/false-negative-cell-free-dna-screening-result-in-a-newborn-with-trisomy-13
#20
Yang Cao, Nicole L Hoppman, Sarah E Kerr, Christopher A Sattler, Kristi S Borowski, Myra J Wick, W Edward Highsmith, Umut Aypar
Background. Noninvasive prenatal screening (NIPS) is revolutionizing prenatal screening as a result of its increased sensitivity, specificity. NIPS analyzes cell-free fetal DNA (cffDNA) circulating in maternal plasma to detect fetal chromosome abnormalities. However, cffDNA originates from apoptotic placental trophoblast; therefore cffDNA is not always representative of the fetus. Although the published data for NIPS testing states that the current technique ensures high sensitivity and specificity for aneuploidy detection, false positives are possible due to isolated placental mosaicism, vanishing twin or cotwin demise, and maternal chromosome abnormalities or malignancy...
2016: Case Reports in Genetics
journal
journal
44051
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"