journal
MENU ▼
Read by QxMD icon Read
search

Journal of Pediatric Genetics

journal
https://www.readbyqxmd.com/read/28798887/attitude-toward-prenatal-testing-and-termination-of-pregnancy-among-health-professionals-and-medical-students-in-saudi-arabia
#1
Nagwa E A Gaboon, Khadijah H Bakur, Alaa Y Edrees, Jumana Y Al-Aama
This study was aimed at assessing the attitude of health care professionals in Jeddah city toward prenatal diagnosis (PND) and termination of pregnancy (TOP). A cross-sectional study was conducted, and the participants completed a self-administered questionnaire. Approximately 82% of participants showed a consistent trend of accepting PND when appropriate, and 47.5% of the respondents were in favor of TOP if the fetus had a severe disease. Compared with men (69.3%), a significantly greater number of women (88%) accepted to have PND...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794916/clinical-variability-in-familial-x-linked-ohdo-syndrome-maat-kievit-brunner-type-with-med12-mutation
#2
Siddaramappa J Patil, Puneeth H Somashekar, Anju Shukla, Satish Siddaiah, Venkatraman Bhat, Katta M Girisha, Pooja N Rao
Ohdo syndrome-Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 ( MED12 ) gene. Here we report a familial OSMKB type with two affected siblings and mutation in MED12 gene.
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794915/occurrence-of-synpolydactyly-and-omphalocele-in-a-fetus-with-a-hoxd13-mutation
#3
Periyasamy Radhakrishnan, Shalini S Nayak, Muralidhar V Pai, Anju Shukla, Katta M Girisha
Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13 . It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. The mother has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele in addition to SPD that is an association not reported to date...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794914/hyperphosphatasia-with-mental-retardation-syndrome-due-to-a-novel-mutation-in-pgap3
#4
Sheela Nampoothiri, Malavika Hebbar, Arun Grace Roy, Sheena P Kochumon, Stephanie Bielas, Anju Shukla, Katta M Girisha
Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome sequencing. Assays for elevated alkaline phosphatase and exome sequencing can be useful for the diagnosis of hyperphosphatasia with mental retardation syndrome.
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#5
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794912/sensorineural-hearing-loss-in-a-patient-affected-by-congenital-cytomegalovirus-infection-is-it-useful-to-identify-comorbid-pathologies
#6
P Fontana, D Melis, A D'Amico, G Cappuccio, G Auletta, P Vassallo, R Genesio, L Nitsch, W Buffolano
Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. This study reports a case of a 3- year-old female patient with symptomatic cCMV infection who also exhibits developmental delay, dysmorphic facial features, bilateral hearing loss, and cochlear incomplete partition, type 2, in 7q21...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794911/severe-form-of-brachydactyly-type-a1-in-a-child-with-a-c-298g%C3%A2-%C3%A2-a-mutation-in-ihh-gene
#7
Smrithi Salian, Anju Shukla, Gen Nishimura, Katta M Girisha
Brachydactyly type A1 (BDA1) is characterized by short middle phalanges. We report the case of a child with a severe form of BDA1 with complete absence of the middle phalanges of all extremities. He had c.298G > A (p.D100N) mutation in IHH gene.
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#8
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794909/role-of-the-lf-sine-derived-distal-isl1-enhancer-in-patients-with-classic-bladder-exstrophy
#9
Rong Zhang, Michael Knapp, Franziska Kause, Heiko Reutter, Michael Ludwig
A genome-wide association study and meta-analysis identified ISL1 as the first genome-wide significant susceptibility gene for classic bladder exstrophy (CBE). A short interspersed repetitive element (SINE), first detected in lobe-finned fishes (LF-SINE), was shown to drive Isl1 expression in embryonic mouse genital eminence. Hence, we assumed this enhancer a conclusive target for mutations associated with CBE formation and analyzed a cohort of 200 CBE patients. Although we identified two enhancer variants in five CBE patients, their clinical significance seems unlikely, implying that sequence variants in the ISL1 LF-SINE enhancer are not frequently associated with CBE...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794908/unusual-de-novo-partial-trisomy-17p12p11-2-due-to-unbalanced-insertion-into-5p13-1-in-a-severely-affected-boy
#10
Luis Alberto Mendez-Rosado, Araceli Lantigua, Juan Galarza, Ahmed B Hamid Al-Rikabi, Monika Ziegler, Thomas Liehr
Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chromosome 5. Microdissection and reverse fluorescence in situ hybridization identified the in 5p13.1 inserted part as 17p12-p11.2 material. Thus the patient suffered from a rare combination of genomic disorder, that is, Charcot-Marie-Tooth disease type 1A and Potocki-Lupski syndrome...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794907/rai1-overexpression-promotes-altered-circadian-gene-expression-and-dyssomnia-in-potocki-lupski-syndrome
#11
Sureni V Mullegama, Joseph T Alaimo, Michael D Fountain, Brooke Burns, Amanda Hebert Balog, Li Chen, Sarah H Elsea
Retinoic acid induced 1 ( RAI1 ) encodes a dosage-sensitive gene that when haploinsufficient results in Smith-Magenis syndrome (SMS) and when overexpressed results in Potocki-Lupski syndrome (PTLS). Phenotypic and molecular evidence illustrates that haploinsufficiency of RAI1 disrupts circadian rhythm through the dysregulation of the master circadian regulator, circadian locomotor output cycles kaput ( CLOCK) , and other core circadian components, contributing to prominent sleep disturbances in SMS. However, the phenotypic and molecular characterization of sleep features in PTLS has not been elucidated...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794906/genetic-screening-of-selected-disease-causing-mutations-in-glutaryl-coa-dehydrogenase-gene-among-indian-patients-with-glutaric-aciduria-type-i
#12
Kruthika-Vinod Tp, Shaik Muntaj, K S Devaraju, M Kamate, A B Vedamurthy
Glutaric aciduria type I (GA-I) is an organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. There are limited studies on GA-I from India. A total of 48 Indian GA-I patients were screened for selected disease-causing mutations such as R402W, A421V, A293T, R227P, and V400M using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Among these patients, 9 (18.8%) had R402W mutation, and none had A421V, A293T, R227P, or V400M mutation. One low excretor mutation (P286S) and several novel mutations (I152M, Q144P, and E414X) were also found in this study...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794905/further-clinical-delineation-of-the-mef2c-haploinsufficiency-syndrome-report-on-new-cases-and-literature-review-of-severe-neurodevelopmental-disorders-presenting-with-seizures-absent-speech-and-involuntary-movements
#13
REVIEW
Irena Vrečar, Josie Innes, Elizabeth A Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton-Smith, Sofia Douzgou
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28497004/progressive-familial-intrahepatic-cholestasis-type-2-in-an-indian-child
#14
Ira Shah, Sujeet Chilkar
Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due to mutations in the ATP8B1 gene mapped to 18q21.31, PFIC-2 due to mutations in ABCB11 mapped to 2q24, and PFIC-3 due to mutations in ABCB4 located on 7q21.12. We report an Indian child whose mutation analysis was suggestive of PFIC-2. He underwent a biliary diversion at 3½ years of age but subsequently died secondary to massive hematemesis...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28497003/achondroplasia-and-biliary-atresia-a-rare-association-and-review-of-literature
#15
Ranjit I Kylat
Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the extra- and intrahepatic biliary tree to varying degrees, and it results in obstruction to bile flow and cholestatic jaundice in neonates. BA is thought to be a multifactorial disease, genome association studies have shown abnormalities in susceptibility genes, and levels of fibroblast growth factor 21 (FGF21) and fibroblast growth factor 23 (FGF23) have been noted to be increased...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28497002/overlap-between-fibular-aplasia-tibial-campomelia-and-oligosyndactyly-and-fuhrmann-s-syndromes-in-an-egyptian-female-infant
#16
Ebtesam M Abdalla, Ahmed A El-Beheiry
We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented with isolated abnormalities of the lower limbs comprising bilateral shortening and anterior bowing of the lower limbs at the distal third of the tibia and split foot. Radiographic examination revealed complete absence of both fibulae, anterolateral bowing and shortening of the tibia, bowing of the femora, and absence of several metatarsal and phalangeal bones...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28497001/klinefelter-syndrome-in-association-with-tetralogy-of-fallot-and-congenital-diaphragmatic-hernia
#17
Sethuraman Swaminathan, Sudheer R Gorla, Deborah S Barbouth
Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications other than the additional X-chromosome, to account for the additional abnormalities in this infant. To the authors' knowledge, this is the first such report of major cardiac and diaphragm anomaly occurring together, in an infant with KS...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28497000/what-is-the-teratogenic-risk-of-mycophenolate
#18
Ranjit I Kylat
Mycophenolate is often used in the management of systemic lupus erythematosus. It has often been associated with significant fetal embryopathy, including fetal loss and multiple anomalies. The Food and Drug Administration has directed that women should be counseled regarding this prior to initiating treatment with this drug. Isolated total anomalous pulmonary venous return (TAPVR) is a rare association seen with its use in pregnancy.
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496999/the-clinical-manifestations-and-genetic-implications-of-baraitser-winter-syndrome-type-2
#19
Tanya C Allawh, Barry Scott Brown
An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496998/multisystem-involvement-in-a-patient-with-a-ptch1-mutation-clinical-and-imaging-findings
#20
Antonio Richieri-Costa, Siulan Vendramini-Pittoli, Nancy Mizue Kokitsu-Nakata, Roseli Maria Zechi-Ceide, Camila Wenceslau Alvarez, Lucilene Arilho Ribeiro-Bicudo
In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p.Val751Gly) in exon 15 of the PTCH1 gene. Mutations in this gene are associated with the nevoid basal cell carcinoma syndrome (NBCCS, OMIM 109400) and, in other instances, with holoprosencephaly (holoprosencephaly-7, OMIM 610828). Severe eye involvement ranging from orbital coloboma to microphthalmia has been seldom reported in patients with NBCCS with PTCH1 mutations...
June 2017: Journal of Pediatric Genetics
journal
journal
44137
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"