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https://www.readbyqxmd.com/read/29033614/fusion-of-lower-limbs-with-severe-urogenital-malformation-in-a-newborn-a-rare-congenital-clinical-syndrome-case-report
#1
Fatemah Al Hadhoud, Abeer H Kamal, Abdulmohsen Al Anjari, Michael Fe Diejomaoh
BACKGROUND: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. CASE REPORT: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29033053/identification-and-characterization-of-a-novel-recessive-kcnq1-mutation-associated-with-romano-ward-long-qt-syndrome-in-two-iranian-families
#2
Zahra Zafari, Mohammad Dalili, Sirus Zeinali, Siamak Saber, Amir Farjam Fazeli Far, Mohammad Taghi Akbari
BACKGROUND: One of the foremost causes of sudden cardiac death in the young is an inherent cardiac arrhythmia known as Long-QT syndrome (LQTS). Whereas heterozygous mutations typically lead to the Romano-Ward type of LQTS, We have provided a further evidence for the recessive transmission of a novel KCNQ1 gene mutation in two consanguineous families for the first time in Iran. METHODS: Next generation sequencing, DNA Sanger sequencing and haplotype analysis were performed for genotype determination...
July 12, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29031008/identification-of-a-novel-homozygous-trappc9-gene-mutation-causing-non-syndromic-intellectual-disability-speech-disorder-and-secondary-microcephaly
#3
Ansar A Abbasi, Kathrin Blaesius, Hao Hu, Zahid Latif, Sylvie Picker-Minh, Muhammad N Khan, Sundas Farooq, Muzammil A Khan, Angela M Kaindl
TRAPPC9 gene mutations have been linked recently to autosomal recessive mental retardation 13 (MRT13; MIM#613192) with only eight families reported world-wide. We assessed patients from two consanguineous pedigrees of Pakistani descent with non-syndromic intellectual disability and postnatal microcephaly through whole exome sequencing (WES) and cosegregation analysis. Here we report six further patients from two pedigrees with homozygous TRAPPC9 gene mutations, the novel nonsense mutation c.2065G>T (p.E689*) and the previously identified nonsense mutation c...
October 14, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29026561/primary-hypogonadism-partial-alopecia-and-m%C3%A3-llerian-hypoplasia-report-of-a-fifth-family-and-review
#4
Ruqayah G Y Al-Obaidi, Bassam M S Al-Musawi
Primary hypogonadism combined with Müllerian hypoplasia and partial alopecia are common features of this syndrome, which was reported only in four earlier families from areas where consanguineous marriage is prevalent. An autosomal recessive pattern of inheritance was suggested earlier and is supported by this report.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29025965/inherited-il-12r%C3%AE-1-deficiency-in-a-child-with-bcg-adenitis-and-oral-candidiasis-a-case-report
#5
Nevin Hatipoglu, B Haluk Güvenç, Caroline Deswarte, Kaya Koksalan, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante
Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent Mycobacteria and Salmonella and also predisposition to chronic mucocutaneous candidiasis...
October 12, 2017: Pediatrics
https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#6
Majdi Nagara, Gregori Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Voskarides Konstantinos, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak
AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Our objective is to identify the mutational spectrum responsible of dRTA in a consanguineous Libyan family...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29023680/first-direct-evidence-of-involvement-of-a-homozygous-loss-of-function-variant-in-the-eps15l1-gene-underlying-split-hand-split-foot-malformation
#7
Muhammad Umair, Asmat Ullah, Safdar Abbas, Farooq Ahmad, Sulman Basit, Wasim Ahmad
Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of one or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c.409delA, p.Ser137Alafs*19) in the EPS15L1 gene located on chromosome 19p13...
October 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29018476/recurrent-and-prolonged-infections-in-a-child-with-a-homozygous-ifih1-nonsense-mutation
#8
Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J Bolz
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient's microcephaly, severe psychomotor retardation, seizures and cataracts. However, she additionally suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization, suggesting a secondary, predisposing and potentially Mendelian, condition...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29016857/biallelic-mutation-of-unc50-encoding-a-protein-involved-in-achr-trafficking-is-responsible-for-arthrogryposis
#9
Emanuela Abiusi, Manuela D'Alessandro, Klaus Dieterich, Loic Quevarec, Sandrina Turczynski, Aurore-Cecile Valfort, Paulette Mezin, Pierre Simon Jouk, Marta Gut, Ivo Gut, Jean Louis Bessereau, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Homozygosity mapping of disease loci combined with whole exome sequencing in a consanguineous family presenting with lethal AMC allowed the identification of a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4) in the index case. To assess the effect of the mutation, an equivalent mutation in the Caenorhabditis elegans orthologous gene was created using CRISPR/Cas9...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29016355/genetic-analysis-of-fructose-1-6-bisphosphatase-fbpase-deficiency-in-nine-consanguineous-pakistani-families
#10
Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Khushnooda Ramzan, Munir Ahmad Bhinder, Hussain Shakeel, Muhammad Iqbal, Asim Aslam, Wasim Shehzad, Huma Arshad Cheema, Habib Rehman
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with FBPase deficiency. METHODS: Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years...
October 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28991683/a-new-pla2g6-mutation-in-a-family-with-infantile-neuroaxonal-dystrophy
#11
Iannello Grazia, Graziano Claudio, Cenacchi Giovanna, Cordelli Duccio Maria, Zuntini Roberta, Papa Valentina, Magistà Anna Maria, Gagliardi Monica, Procopio Radha, Quattrone Aldo, Annesi Grazia
Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis. PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14)...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28991511/prevalence-of-congenital-ocular-anomalies-among-children-with-genetic-disorders-an-egyptian-study
#12
Reham H Tomairek, Maha M Amin, Karima Raafat, Sawsan Abdel Hady, Ahmed Elkotoury
PURPOSE: To assess the pattern and frequency of occurrence of ocular anomalies among other genetic disorders in Egypt. METHODS: This is a cross-sectional study of 2500 cases presenting with genetic disorders. Cases were recruited from the clinical genetics department of the National Research Centre (NRC) over a four-year period between January 2011 and December 2014. Ophthalmological examination of the cases was performed in the pediatric ophthalmology department of Cairo University Hospitals...
October 9, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28988429/homozygous-indel-mutation-in-cdh11-as-the-probable-cause-of-elsahy-waters-syndrome
#13
Ekim Z Taskiran, Beren Karaosmanoglu, Can Koşukcu, Özlem A Doğan, Hande Taylan-Şekeroğlu, Pelin Ö Şimşek-Kiper, Eda G Utine, Koray Boduroğlu, Mehmet Alikaşifoğlu
Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, broad and bulbous noses, and mild prognathism. Both had glaucoma, younger one also had cataracts and phthisis bulbi. Other findings included bilateral partial cutaneous syndactyly of 2nd and 3rd fingers, history of impacted teeth with dentigerous cyst in the elder one, and intellectual disability (mild and borderline)...
October 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28988253/prevalence-of-congenital-heart-diseases-in-children-with-down-syndrome-in-mansoura-egypt-a-retrospective-descriptive-study
#14
Abdel-Hady El-Gilany, Sohier Yahia, Yahya Wahba
BACKGROUND: The pattern and risk factors for congenital heart diseases (CHD) in children with Down syndrome (DS) vary over time. OBJECTIVES: To update knowledge of the prevalence, types, trends and associated factors for CHD in children with DS in the Egyptian Delta. DESIGN: A retrospective hospital record-based descriptive study. SETTING: A tertiary care center in Mansoura, Egypt during a period of 14 years from 2003 up to 2016...
September 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/28985730/clinical-utility-of-the-low-density-infinium-qc-genotyping-array-in-a-genomics-based-diagnostics-laboratory
#15
Petr Ponomarenko, Alex Ryutov, Dennis T Maglinte, Ancha Baranova, Tatiana V Tatarinova, Xiaowu Gai
BACKGROUND: With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haplotyping, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmacogenomics. It represents an attractive independent QC option for NGS-based diagnostic laboratories, and provides cost-efficient means for determining gender, ethnic ancestry, and sample kinships, that are important for data interpretation of NGS-based genetic tests. METHODS: We evaluated accuracy and reproducibility of Infinium QC genotyping calls by comparing them with genotyping data of the same samples from other genotyping platforms, whole genome/exome sequencing...
October 6, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28985353/loss-of-adamts3-activity-causes-hennekam-lymphangiectasia-lymphedema-syndrome-3
#16
Pascal Brouillard, Laura Dupont, Raphael Helaers, Richard Coulie, George E Tiller, Joseph Peeden, Alain Colige, Miikka Vikkula
Primary lymphedema is due to developmental and/or functional defects in the lymphatic system. It may affect any part of the body, with predominance for the lower extremities. Twenty-seven genes have already been linked to primary lymphedema, either isolated, or as part of a syndrome. The proteins that they encode are involved in VEGFR3 receptor signaling. They account for about one third of all primary lymphedema cases, underscoring the existence of additional genetic factors. We used whole-exome sequencing to investigate the underlying cause in a non-consanguineous family with two children affected by lymphedema, lymphangiectasia and distinct facial features...
August 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28980090/isolated-sulfite-oxidase-deficiency
#17
Helena Claerhout, Peter Witters, Luc Régal, Katrien Jansen, Marie-Rose Van Hoestenberghe, Jeroen Breckpot, Pieter Vermeersch
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 47 patients (45 previously reported in the literature). Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), plasma cystine, total homocysteine, uric acid, and oxypurines in urine] and radiological findings (including cerebral/cerebellar atrophy, cystic white matter changes, ventriculomegaly)...
October 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28979898/a-novel-mutation-in-foxc1-in-a-lebanese-family-with-congenital-heart-disease-and-anterior-segment-dysgenesis-potential-roles-for-nfatc1-and-dpt-in-the-phenotypic-variations
#18
Athar Khalil, Christiane Al-Haddad, Hadla Hariri, Kamel Shibbani, Fadi Bitar, Mazen Kurban, Georges Nemer, Mariam Arabi
Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents. Despite tremendous insights gained from genetic studies, a clear genotype-phenotype correlation is still difficult to draw. In Lebanon, a small country with still a high rate of consanguineous marriages, there are little data on the epidemiology of glaucoma amongst children with or without CHD...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28979739/epilepsy-as-a-health-problem-among-school-children-in-turaif-northern-saudi-arabia-2017
#19
Mahmoud Mohammed Alsharif, Nagah Mohamed Abo El-Fetoh, Gihan Yousef Ali, Khulud Falah Alanazi, Anfal Nayir Alanazi, Ohud FalahAlanazi, Maha Hazzaa Alshalan, Zuhur Dhaher Alfuhigi, Anwar Eid Alruwaili, Reem Sebeh Alhazmi, Ajaweed Saud Muharrab Alruwaili, Tariq Mozil Aquab Alanizy, Jazzaa Hammad Alshammari, Alwaleed Oqab Altimyat, Muharib Mana Muhaylan Alshammari
BACKGROUND: Epilepsy is the most common serious neurological disorder and is one of the world's most prevalent non-communicable diseases. There are no recently published data on the prevalence of epilepsy in school children in Northern Saudi Arabia. OBJECTIVE: This study was conducted to determine the prevalence of epilepsy and to show some of its risk factors in school children and adolescents (6-18 years) in Turaif city, Northern Saudi Arabia. METHODS: This, population-based, cross-sectional study was conducted in Turaif city, over a 6-month period, from July 2016 to January 2017...
August 2017: Electronic Physician
https://www.readbyqxmd.com/read/28979623/-piebaldisme-a-rare-genodermatosis
#20
Fatima Zahra Debbarh, Fatima Zahra Mernissi
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made...
2017: Pan African Medical Journal
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