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Journal of Pediatric Genetics

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https://www.readbyqxmd.com/read/30105124/22q11-2-microduplication-an-enigmatic-genetic-disorder
#1
Ranjit I Kylat
Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variable. We describe a case of severe micrognathia, cleft palate, and Pierre-Robin sequence. A prenatal ultrasound showed severe micrognathia and subsequent microarray done on amniocentesis revealed the microduplication of 22q11...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105123/challenges-in-diagnosing-rare-genetic-causes-of-common-in-utero-presentations-report-of-two-patients-with-mucolipidosis-type-ii-i-cell-disease
#2
Gregory Costain, Michal Inbar-Feigenberg, Maha Saleh, Shimrit Yaniv-Salem, Greg Ryan, Eric Morgen, Elaine S Goh, Gen Nishimura, David Chitayat
Traditional approaches to prenatal genetic diagnosis for common presentations such as short femurs or intrauterine growth restriction are imperfect, and whole-exome sequencing is an emerging option. Mucolipidosis type II (I-cell disease) is an ultra-rare autosomal recessive lysosomal storage disorder with the potential for prenatal-onset skeletal and placental manifestations. We describe the prenatal signs in two recent unrelated patients with confirmed diagnoses soon after birth. In both cases, parents were consanguineous but there was no known family history of mucolipidosis type II...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105122/report-of-the-third-family-with-multiple-mitochondrial-dysfunctions-syndrome-5-caused-by-the-founder-variant-p-glu87lys-in-isca1
#3
Anju Shukla, Parneet Kaur, Katta M Girisha
Iron-sulfur cluster assembly 1 (ISCA1) is one of the essential proteins operating in the mitochondrial iron-sulfur (Fe-S) cluster biogenesis pathway. We reported the variant c.259G > A [p.(Glu87Lys)] in homozygous state in exon 4 of the ISCA1 gene as the likely cause of multiple mitochondrial dysfunction syndrome 5 in a previous publication. We now report the third patient with the same phenotype and variant, further supporting the possibility of a founder event. Our observation confirms the clinical presentation associated with a probable founder variant in this condition...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105121/an-interesting-and-unique-case-of-8p23-3p23-1-deletion-and-8p23-1p11-1-interstitial-duplication-syndrome
#4
Vivek Kumar, Shuvendu Roy, Gaurav Kumar
We report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1 deletion and 8p23.1p11.1 interstitial duplication syndrome. In comparison to similar reports of 8p deletion and inverted duplication syndrome, the uniqueness of this report lies in the fact that the congenital heart defect occurred without the GATA4 gene involvement, and the nervous system involvement was more extensive...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105120/multiple-hereditary-exostoses-report-of-an-ext2-gene-mutation-in-a-colombian-family
#5
Jhon Camacho, Luz Dary Gutierrez, Cladelis Rubio, Alfonso Suárez, Angie Amaya
Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. In this family, a pathogenic variant c.544C > T (p. Arg182Ter) was identified in the EXT2 gene. This variant has been previously described in the literature, and here we are reporting the relationship with clinical findings...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105119/a-case-of-shwachman-diamond-syndrome-who-presented-with-hypotonia
#6
Zeren Barış, Figen Özçay, Lale Olcay, Serdar Ceylaner, Taner Sezer
We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic deficiency, bone marrow dysfunction with increased risk for malignant transformation, and skeletal abnormalities. It should be included in differential diagnosis of patients with failure to thrive and unexplained neurodevelopmental delay with neutropenia...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105118/paroxysmal-movement-disorder-and-epilepsy-caused-by-a-de-novo-truncating-mutation-in-kat6a
#7
Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, Henry Houlden
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105117/oxidative-stress-and-polymorphism-in-mthfr-snps-677-and-1298-in-paternal-sperm-dna-is-associated-with-an-increased-risk-of-retinoblastoma-in-their-children-a-case-control-study
#8
Shilpa Bisht, Bhavna Chawla, Rima Dada
Sperm DNA is considered as the most vulnerable to oxidative stress-induced damage that also impairs global sperm DNA methylation leading to sperm-associated pathologies. C677T and A1298C polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene affect MTHFR enzyme activity. This study was planned as a case-control study to determine the MTHFR gene polymorphisms in the fathers of children affected with sporadic nonfamilial heritable retinoblastoma in an Indian population. MTHFR polymorphisms for single nucleotide polymorphisms 677 and 1298 were also determined in sporadic nonfamilial heritable retinoblastoma patients to estimate the risk for retinoblastoma development and to evaluate the role of MTHFR in retinoblastoma pathogenesis...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30105116/identification-of-two-novel-mutations-in-aminomethyltransferase-gene-in-cases-of-glycine-encephalopathy
#9
Akella Radha Rama Devi, Lokesh Lingappa, Shaik Mohammad Naushad
In this study, we report three cases of nonketotic hyperglycinemia (NKHG) diagnosed biochemically and molecularly. Clinical exome analysis in two families revealed two novel mutations in the aminomethyltransferase (AMT) gene, that is, c.14_15insT (p.Ser6LysfsTer22) and c.259-2A > T, both of them adversely affecting the protein. This is the first report of AMT gene mutations in NKHG from India. Prenatal diagnosis in the first family showed an unaffected fetus in the third pregnancy. The role of AMT protein is pivotal for the synthesis of 5,10-methylene tetrahydrofolate, the first metabolite in one-carbon metabolism that regulates DNA synthesis, repair, and methylation...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707412/oral-facial-digital-syndrome-type-1-oral-findings-in-a-6-year-old-girl
#10
Zuhal Kırzıoglu, Esra Oz
Oral-facial-digital syndrome (OFDS) is a group of congenital anomalies with 13 different forms. OFDS type 1 (OFDS1) is a developmental genetic anomaly related to the X chromosome, that is often seen in girls, and affects the face, oral cavity, and extremities. In this study, we discuss the oral findings of a 6-year-old girl with OFDS1 and her situation after 2.5 years.
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707411/case-report-of-proliferative-peripheral-retinopathy-in-two-familial-lissencephaly-infants-with-miller-dieker-syndrome
#11
Omar Shoukfeh, Alan B Richards, Leonard A Prouty, John Hinrichsen, William Rand Spencer, Marlyn P Langford
A complete ophthalmic examination is not routinely performed on infants with Miller-Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein-Taybi syndrome). Retinopathy of prematurity-like proliferative peripheral retinopathy (PPR) was detected in two male first cousins, but was not detected in the female half-cousins. PPR in the first infant resolved by 4 months, but the second infant's PPR progressed, requiring photocoagulation followed by lens-sparing vitrectomy...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707410/a-2-year-old-child-with-bilateral-ectopis-lentis-and-a-novel-fbn1-gene-variant-cys129ser
#12
Ahmed N Mohammad, Paldeep S Atwal
Marfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent criteria used for Marfan syndrome diagnosis helped in resolving some of the confusion, especially in younger children. We report on a case of bilateral ectopia lentis in a 2-year-old child with a normal echocardiogram. FBN1 sequencing revealed a novel likely pathogenic variant described as c...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707409/juvenile-idiopathic-arthritis-associated-with-combined-jp-hht-syndrome-a-novel-phenotype-associated-with-a-novel-variant-in-smad4
#13
Juliet Chhay Bishop, Jacquelyn Francis Britton, Anne M Murphy, Sangeeta Sule, Sally Mitchell, Clifford Takemoto, Joseph M Collaco, Wikrom Karnsakul, Carmelo Cuffari, Edith Dietz, Joann Bodurtha
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP-HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the SMAD4 gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic disease marked by arthritis and systemic inflammation for which the cause remains unknown...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707408/a-de-novo-xp11-23-duplication-in-a-girl-with-a-severe-phenotype-expanding-the-clinical-spectrum
#14
Pinar Arican, Dilek Cavusoglu, Pinar Gencpinar, Berk Ozyilmaz, Taha Resid Ozdemir, Nihal Olgac Dundar
The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small duplication at Xp11.23. The case we present here is the first case showing the clinical features of Xp11.22-p11.23 duplication syndrome only involving synovial sarcoma, X breakpoint ( SSX ) genes: SSX1 , SSX3 , SSX4 , and SSX9 ...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707407/variants-associated-with-infantile-cholestatic-syndromes-detected-in-extrahepatic-biliary-atresia-by-whole-exome-studies-a-20-case-series-from-thailand
#15
Surasak Sangkhathat, Wison Laochareonsuk, Wanwisa Maneechay, Kanita Kayasut, Piyawan Chiengkriwate
Biliary atresia (BA) is the most severe form of obstructive cholangiopathy occurring in infants. Definitive diagnosis of BA usually relies on operative findings together with supporting pathological patterns found in the extrahepatic bile duct. In infancy, overlapping clinical patterns of cholestasis can be found in other diseases including biliary hypoplasia and progressive familial intrahepatic cholestasis. In addition, BA has been reported as a phenotype in some rare genetic syndromes. Unlike BA, other cholangiopathic phenotypes have their own established genetic markers...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707406/three-mutations-in-the-bilateral-frontoparietal-polymicrogyria-gene-gpr56-in-pakistani-intellectual-disability-families
#16
Humaira Aziz Sawal, Ricardo Harripaul, Anna Mikhailov, Kayla Vleuten, Farooq Naeem, Tanveer Nasr, Muhammad Jawad Hassan, John B Vincent, Muhammad Ayub, Muhammad Arshad Rafiq
Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties, and caused by mutations in the G protein-coupled receptor 56 ( GPR56 ) gene. Twenty-eight mutations in 40 different families have been reported in the literature. The clinical and neuroimaging phenotype is consistent in these cases. The BFPP cortex consists of numerous small gyral cells, with scalloping of the cortical-white matter junction...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29707405/genetics-of-refractory-rickets-identification-of-novel-phex-mutations-in-indian-patients-and-a-literature-update
#17
REVIEW
Binata Marik, Arvind Bagga, Aditi Sinha, Pankaj Hari, Arundhati Sharma
Refractory rickets is a genetic disorder that cannot be treated by vitamin D supplementation and adequate dietary calcium and phosphorus. Hereditary hypophosphatemic rickets is one of the major forms of refractory rickets in Indian children and caused due to mutations in the PHEX , FGF23 , DMP1 , ENPP1 , and SLC34A3 genes. This is the first study in India on a large number of patients reporting on mutational screening of the PHEX gene. Direct sequencing in 37 patients with refractory rickets revealed eight mutations in 13 patients of which 1 was nonsense, 2 were deletions, 1 was a deletion-insertion, and 4 were missense mutations...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29443330/reply-to-the-letter-sensorineural-hearing-loss-and-congenital-cytomegalovirus-infection
#18
COMMENT
Paolo Fontana
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29441223/sensorineural-hearing-loss-and-congenital-cytomegalovirus-infection
#19
Beuy Joob, Viroj Wiwanitkit
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29441222/disability-related-problems-of-children-and-adolescents-with-moebius-sequence-and-their-mothers-coping
#20
Wolfgang Briegel
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
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