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https://www.readbyqxmd.com/read/29453416/homozygous-deletion-in-myl9-expands-the-molecular-basis-of-megacystis-microcolon-intestinal-hypoperistalsis-syndrome
#1
Carolina Araujo Moreno, Nara Sobreira, Elizabeth Pugh, Peng Zhang, Gary Steel, Fábio Rossi Torres, Denise Pontes Cavalcanti
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disease characterized by functional obstruction in the urinary and gastrointestinal tract. The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29453415/erlin1-mutations-cause-teenage-onset-slowly-progressive-als-in-a-large-turkish-pedigree
#2
Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A Nazlı Başak
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly progressive form of ALS. Spastic walking is observed since teenage years, while bulbar symptoms start much later, at the fifth or sixth decade of life...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29450879/genetic-investigation-of-93-families-with-microphthalmia-or-posterior-microphthalmos
#3
N Patel, A O Khan, S Alsahli, G Abdel-Salam, S R Nowilaty, A M Mansour, A Nabil, M Al-Owain, S Sogati, M A Salih, A M Kamal, H Alsharif, H Alsaif, S S Alzahrani, F Abdulwahab, N Ibrahim, M Hashem, T Faquih, Z A Shah, M Abouelhoda, D Monies, M Dasouki, R Shaheen, S Majid, M A Aldahmesh, F S Alkuraya
Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many disease genes in microphthalmia, at least 50% of patients remain undiagnosed genetically. Here, we describe a cohort of 147 patients (93 families) from our highly consanguineous population with various forms of microphthalmia (including the distinct entity of posterior microphthalmos) that were investigated using a next-generation sequencing multi-gene panel (i-panel) as well as whole exome sequencing (WES) and molecular karyotyping...
February 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29449188/novel-homozygous-variants-in-atcay-mcoln1-and-sacs-in-complex-neurological-disorders
#4
Humera Manzoor, Norbert Brüggemann, Hafiz Muhammad Jafar Hussain, Tobias Bäumer, Frauke Hinrichs, Muhammad Wajid, Alexander Münchau, Sadaf Naz, Katja Lohmann
BACKGROUND: Neurological disorders comprise a large group of clinically and genetically heterogeneous disorders, many of which have a genetic cause. In addition to a detailed neurological examination, exome sequencing is being increasingly used as a complementary diagnostic tool to identify the underlying genetic cause in patients with unclear, supposedly genetically determined disorders. OBJECTIVE: To identify the genetic cause of a complex movement disorder in five consanguineous Pakistani families...
February 6, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29445638/comparison-characteristics-of-family-and-demographic-of-children-with-antenatal-hydronephrosis-between-2-nd-and-3-rd-trimesters-of-gestation
#5
Maryam Nazemipour, Abdol-Mohammad Kajbafzadeh, Kazem Mohammad, Abbas Rahimi Foroushani, Asal Hojjat, Maryam Seyedtabib, Ali Nazemipour, Mahmood Mahmoudi
Background: The aim of this study was comparison characteristics of family and demographics of children with antenatal hydronephrosis, in 2 nd and 3 rd trimester of pregnancy, in order to the need for postnatal management. Methods: This cross-sectional study described some information from family of children with antenatal hydronephrosis, at the Pediatric Urology Research Center of Children's Hospital Medical Center of Tehran University of Medical Sciences. Data for 193 children, admitted in 2012-2013, were collected retrospectively...
February 2018: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29440775/genetic-defects-in-mtdna-encoded-protein-translation-cause-pediatric-mitochondrial-cardiomyopathy-with-early-onset-brain-disease
#6
Rick Kamps, Radek Szklarczyk, Tom E Theunissen, Debby M E I Hellebrekers, Suzanne C E H Sallevelt, Iris B Boesten, Bart de Koning, Bianca J van den Bosch, Gajja S Salomons, Marisa Simas-Mendes, Rob Verdijk, Kees Schoonderwoerd, Irenaeus F M de Coo, Jo M Vanoevelen, Hubert J M Smeets
This study aims to identify gene defects in pediatric cardiomyopathy and early-onset brain disease with oxidative phosphorylation (OXPHOS) deficiencies. We applied whole-exome sequencing in three patients with pediatric cardiomyopathy and early-onset brain disease with OXPHOS deficiencies. The brain pathology was studied by MRI analysis. In consanguineous patient 1, we identified a homozygous intronic variant (c.850-3A > G) in the QRSL1 gene, which was predicted to cause abnormal splicing. The variant segregated with the disease and affected the protein function, which was confirmed by complementation studies, restoring OXPHOS function only with wild-type QRSL1...
February 13, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29440706/a-homozygous-nop14-variant-is-likely-to-cause-recurrent-pregnancy-loss
#7
Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina, Eriko Koshimizu, Atsushi Fujita, Futoshi Sekiguchi, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Kazuhiro Ogata, Satoru Takeda, Naomichi Matsumoto, Noriko Miyake
Recurrent pregnancy loss is newly defined as more than two consecutive miscarriages. Recurrent pregnancy loss occurs in <5% of total pregnancies. The cause in approximately 40-60% of recurrent pregnancy loss cases remains elusive and must be determined. We investigated two unrelated Iranian consanguineous families with recurrent pregnancy loss. We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families...
February 13, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29437806/rhabdomyolysis-in-stuve-wiedemann-syndrome
#8
Pemantah Sandheeah Ramdeny, Colin Powell, Mallinath Chakraborty, Louise Hartley
A 6-month-old male infant with Stuve-Wiedemann syndrome (SWS) presented with an acute respiratory arrest secondary to a rhinovirus respiratory infection from which he was rapidly resuscitated. He developed an acute kidney injury requiring supportive treatment and on day 3 of his illness was noted to have developed severe rhabdomyolysis (creatine kinase level 132 040 U/L (normal <320 U/L)). He was born from consanguineous parents with homozygous mutations in the leukaemia inhibitory factor receptor. He had skeletal dysplasia with metabolic bone disease and episodes of hyperthermia with lactic acidosis...
February 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29437580/the-epidemiology-of-childhood-blindness-and-severe-visual-impairment-in-indonesia
#9
Mohammad Muhit, Tasneem Karim, Johurul Islam, Denny Hardianto, Habibah Setyawati Muhiddin, Setia A Purwanta, Suhardjo Suhardjo, Doni Widyandana, Gulam Khandaker
BACKGROUND: The magnitude of blindness among children in Indonesia is unknown. In this study, we aimed to define the magnitude and aetiology of childhood blindness in two parts of Indonesia. METHOD: Children aged 0-15 years, identified through key informant method and from special schools and community-based rehabilitation programme in Sumba and Yogyakarta, were assessed following WHO protocol and definitions for ophthalmological assessment and classification of visual impairment and blindness among children...
February 6, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29436407/infant-deaths-from-congenital-anomalies-novel-use-of-child-death-overview-panel-data
#10
Catriona Firth, Emily Petherick, Sam J Oddie
OBJECTIVE: We aimed to assess Child Death Overview Panel (CDOP) data validity, and cause of death classification, by comparison with information from a local birth cohort study (Born in Bradford, BiB), and another cause of death coding system (causes of death and associated conditions-CODAC). We then aimed to use CDOP data to calculate ethnic-specific infant mortality rates (IMRs), and compare characteristics of infants who died of congenital anomalies (CA) with those who died from other causes (non-CA)...
February 7, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29436111/a-biallelic-antxr1-variant-expands-the-anthrax-toxin-receptor-associated-phenotype-to-tooth-agenesis
#11
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, Yavuz Bayram, Shalini N Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Eric Boerwinkle, Richard A Gibbs, Jennifer E Posey, James R Lupski, Zehra O Uyguner, Ariadne Letra
Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c...
February 13, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29435075/-brca1-homozygous-unclassified-variant-in-a-patient-with-non-fanconi-anemia-a-case-report
#12
Bondavalli Davide, Malvestiti Francesca, Pensotti Valeria, Feroce Irene, Bonanni Bernardo
The present case report discusses a woman affected by chronic lymphatic leukemia and breast cancer with a familial history of breast cancer; suspected to be hereditary breast and ovarian cancer (HBOC) syndrome. The patient underwent BRCA1 and BRCA2 genetic testing. Sequencing of BRCA1 revealed the presence of the variant of unknown significance (VUS) c.3082C>T (p.Arg1028Cys) at homozygous state, whereas no mutations were detected in BRCA2 . Multiplex ligation-dependent probe amplification confirmed the presence of two alleles...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29434669/copy-number-variation-and-regions-of-homozygosity-analysis-in-patients-with-m%C3%A3-llerian-aplasia
#13
Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P Chorich, Megan E Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M Alper, Lawrence C Layman
Background: Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but heterozygous copy number variants (CNVs) have been described. However, the significance of these CNVs in the pathogenesis of MRKH is unknown, but suggests possible autosomal dominant inheritance. We are not aware of CNV studies in consanguineous patients, which could pinpoint genes important in autosomal recessive MRKH...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29431480/identification-of-a-novel-nonsense-aspm-mutation-in-a-large-consanguineous-pakistani-family-using-targeted-next-generation-sequencing
#14
Amjad Khan, Rongrong Wang, Shirui Han, Wasim Ahmad, Xue Zhang
AIMS: To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS: A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was carried out to analyze the genomic DNA sample from the proband with MCPH using a previously designed panel targeting 46 known microcephaly-causing genes. Sanger sequencing was performed to verify all identified variants...
February 12, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29430868/a-novel-homozygous-ap4b1-mutation-in-two-brothers-with-ap-4-deficiency-syndrome-and-ocular-anomalies
#15
Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau, Jacques L Michaud, Myriam Srour
Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype...
February 12, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29430627/a-novel-homozygous-missense-variant-in-nectin4-pvrl4-causing-ectodermal-dysplasia-cutaneous-syndactyly-syndrome
#16
Farooq Ahmad, Abdul Nasir, Holger Thiele, Muhammad Umair, Guntram Borck, Wasim Ahmad
Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 (PVRL4)...
February 12, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29429767/epidemiological-characteristics-of-hirschsprung-s-disease-hscr-results-of-a-case-series-of-fifty-patients-from-bangladesh
#17
Anwarul Karim, Mastura Akter, Tasmiah T Aziz, Mozammel Hoque, Tanvir K Chowdhury, Md Sharif Imam, Adnan Walid, Mahfuzul Kabir, Manting So, Wai Yee Lam, Clara Sm Tang, Kenneth K Wong, Paul K Tam, Merce Garcia-Barcelo, Tahmina Banu
BACKGROUND: The epidemiology of Hirschsprung's disease (HSCR) in Bangladesh has never been studied. The aim of this study was to determine the epidemiological characteristics of HSCR in Bangladesh. METHODS: Data from fifty patients were collected prospectively from two hospitals in Chittagong, Bangladesh. RESULTS: The rate of consanguinity (16%) among parents of HSCR patients was higher than that of the general population (10%). Maternal age at the time of birth of the affected child was ≤30years in all cases except one...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29427439/characteristics-of-genetic-diseases-in-consanguineous-populations-in-the-genomic-era-lessons-from-arab-communities-in-north-israel
#18
REVIEW
S A Shalev
The health outcome of consanguineous/endogamous unions is an increased risk of autosomal recessive disorders in their progeny. This manuscript is focused on consanguineous/endogamous populations living in North Israel. Molecular tools show that spouses' relatedness and hence their risks for congenital diseases among offspring are often greater than the risk calculated on the basis of reported pedigrees. Revealing founder mutations allows for effective genetic counseling, but also induces genetic screening of the whole community in case the mutations are found to be frequent...
February 10, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29423877/nhlrc2-variants-identified-in-patients-with-fibrosis-neurodegeneration-and-cerebral-angiomatosis-finca-characterisation-of-a-novel-cerebropulmonary-disease
#19
Johanna Uusimaa, Riitta Kaarteenaho, Teija Paakkola, Hannu Tuominen, Minna K Karjalainen, Javad Nadaf, Teppo Varilo, Meri Uusi-Mäkelä, Maria Suo-Palosaari, Ilkka Pietilä, Anniina E Hiltunen, Lloyd Ruddock, Heli Alanen, Ekaterina Biterova, Ilkka Miinalainen, Annamari Salminen, Raija Soininen, Aki Manninen, Raija Sormunen, Mika Kaakinen, Reetta Vuolteenaho, Riitta Herva, Päivi Vieira, Teija Dunder, Hannaleena Kokkonen, Jukka S Moilanen, Heikki Rantala, Lawrence M Nogee, Jacek Majewski, Mika Rämet, Mikko Hallman, Reetta Hinttala
A novel multi-organ disease that is fatal in early childhood was identified in three patients from two non-consanguineous families. These children were born asymptomatic but at the age of 2 months they manifested progressive multi-organ symptoms resembling no previously known disease. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. In the affected children, neuropathology revealed increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration...
February 8, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29423242/a-novel-loss-of-function-mutation-in-hace1-is-linked-to-a-genetic-disorder-in-a-patient-from-india
#20
Nivedita Hariharan, Samathmika Ravi, Bulagonda Eswarappa Pradeep, Koushik Narayan Subramanyam, Bibha Choudhary, Subhashini Srinivasan, Prakash Khanchandani
A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonatal screening to assign novel functions. Here, we report a novel loss-of-function mutation (p.Trp370*) in the HACE1 gene that is associated with a rare congenital neurodevelopmental disorder in a boy from a remote village in southern India...
2018: Human Genome Variation
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