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https://www.readbyqxmd.com/read/29223505/pakistan-genetic-mutation-database-pgmd-a-centralized-pakistani-mutome-data-source
#1
Iqbal Qasim, Bilal Ahmad, Muzammil Ahmad Khan, Niamatullah Khan, Noor Muhammad, Sulman Basit, Saadullah Khan
The development and advancement of next generation sequencing have not only sped up the process of identifying rare variants, but have also enabled scientists to explore all variants in a single individual. The Pakistani population has a high ratio of first degree consanguinity, which is why it is a rich source for various kinds of genetic disorders. Due to the heterogeneous composition of Pakistani population, the likelihood of genetic heterogeneity for each disorder is high. Therefore, the compilation and organization of such vast genetic data is necessary to facilitate access for analysis and interpretation to researchers and medical geneticists...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29218122/effect-of-growth-hormone-on-final-height-in-children-with-idiopathic-short-stature-a-uae-eastern-region-experience
#2
Shireen Mreish, Walid Kaplan, Fares Chedid
Objectives: The use of growth hormone (GH) in idiopathic short stature (ISS) has been a subject of debate for the past two decades. We sought to assess the effect of GH on final height (FH) in patients with ISS in our region, which has a high consanguinity rate, and compare it to the effect observed in GH deficient (GHD) patients. Methods: We conducted a retrospective chart review from 1 January 2005 to 31 December 2013 for patients with ISS or GHD from the local United Arab Emirates population who received GH treatment and were followed-up regularly in our clinic...
November 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/29217198/clinical-molecular-and-computational-analysis-in-two-cases-with-mitochondrial-encephalomyopathy-associated-with-suclg1-mutation-in-a-consanguineous-family
#3
Marwa Maalej, Amel Tej, Jihène Bouguila, Samia Tilouche, Senda Majdoub, Boudour Khabou, Mouna Tabbebi, Rahma Felhi, Marwa Ammar, Emna Mkaouar-Rebai, Leila Keskes, Lamia Boughamoura, Faiza Fakhfakh
Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (β subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c...
December 4, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29215096/exome-sequencing-revealed-a-novel-nonsense-variant-in-alx3-gene-underlying-frontorhiny
#4
Asmat Ullah, Muhammad Umair, Umm E-Kalsoom, Shaheen Shahzad, Sulman Basit, Wasim Ahmad
Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. Sometimes these phenotypes are associated with ptosis and midline dermoid cysts. Frontorhiny inherits in an autosomal recessive pattern. Sequence variants in the Aristaless-like homeobox 3 (ALX3) gene underlying frontorhiny have been reported previously. Here, in the present study, we have investigated four patients in a consanguineous family of Pakistani origin segregating frontorhiny in autosomal recessive manner...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215095/homozygosity-for-a-nonsense-variant-in-aimp2-is-associated-with-a-progressive-neurodevelopmental-disorder-with-microcephaly-seizures-and-spastic-quadriparesis
#5
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta M Girisha, Neerja Gupta, Ashwin Dalal
We ascertained two unrelated consanguineous families with two affected children each having microcephaly, refractory seizures, intellectual disability, and spastic quadriparesis. Magnetic resonance imaging showed atrophy of cerebrum, cerebellum and spinal cord, prominent cisterna magna, symmetric T2 hypo-intensities in the bilateral basal ganglia and thinning of corpus callosum. Whole-exome sequencing of three affected individuals revealed c.105C>A [p.(Tyr35Ter)] variant in AIMP2. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29213169/clinical-profile-of-neural-tube-defects-in-sudanese-children-is-malaria-a-risk-factor
#6
Basma Sadik, Haydar E Babikir, Mohammed A R Arbab
Neural tube defects (NTDs) are one of the most common structural malformations in human kind. It is a public health problem with great impact on the child, parents and the community at large. The aim is to study the epidemiological profile and patterns of NTDs in under five-year of age Sudanese children who attended the neurosurgical clinic at the National Centre of Neurological Sciences (NCNS), Khartoum during the period from March 2014 to December 2014. This was a prospective cross-sectional study conducted at the neurosurgery clinic in NCNS, Khartoum...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29211182/-prevalence-of-hemoglobin-variants-in-quilombola-communities-in-the-state-of-piau%C3%A3-brazil
#7
Leonardo Ferreira Soares, Eleonidas Moura Lima, José Alexsandro da Silva, Suenia Soares Fernandes, Keyla Malba da Costa Silva, Sarah Pereira Lins, Bolivar Ponciano Goulart de Lima Damasceno, Roseane Mara Cardoso Lima Verde, Marilda de Souza Gonçalves
Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC)...
November 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/29209666/novel-duplication-mutation-of-the-dysf-gene-in-a-pakistani-family-with-miyoshi-myopathy
#8
Muhammad I Ullah, Arsalan Ahmad, Milena Zarkovic, Syed S Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A Hubner, Muhammad J Hassan
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited family members was extracted and the Trusight one sequencing panel was used to assess genes associated with a neuro-muscular phenotype...
December 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29208051/a-novel-mutation-in-st14-at-a-functionally-significant-amino-acid-residue-expands-the-spectrum-of-ichthyosis-hypotrichosis-syndrome
#9
Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the development of this syndrome is incomplete. RESULTS: Using a targeted next-generation sequencing array of 38 ichthyosis-associated genes on a large cohort of 180 ichthyosis patients from a primarily consanguineous background, a previously unreported homozygous p...
December 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29207948/homozygous-grid2-missense-mutation-predicts-a-shift-in-the-d-serine-binding-domain-of-glud2-in-a-case-with-generalized-brain-atrophy-and-unusual-clinical-features
#10
Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl
BACKGROUND: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay. CASE PRESENTATION: We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings...
December 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29205186/a-cross-sectional-survey-of-multi-generation-inflammatory-bowel-disease-consanguinity-and-its-relationship-with-disease-onset
#11
Mahmoud Mosli, Abdulelah Alzahrani, Showlag Showlag, Abdullah Alshehri, Ahmed Hejazi, Majed Alnefaie, Adel Almaymuni, Mubarak Abdullahi, Mohammed Albeshir, Eman Alsulais, Hani Jawa, Emad Aljahdli, Salem Bazarah, Yousif Qari
Background\Aim: Consanguinity influences the phenotypic variations of some hereditary and immune-mediated disorders, including inflammatory bowel disease. This study estimated the prevalence of consanguinity among the ancestors of patients with inflammatory bowel disease and examined the effect of various consanguinity levels on inflammatory bowel disease onset. PATIENTS AND METHODS: Patients with inflammatory bowel disease who were seen at two gastroenterology outpatient clinics were consecutively recruited and surveyed for demographics, disease onset, and presence of ancestral consanguinity within three generations...
November 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/29204013/a-family-study-of-consanguinity-in-children-with-intellectual-disabilities-in-barwani-india
#12
Ram Lakhan, Rajshekhar Bipeta, Srinivasa S R R Yerramilli, Vinayak K Nahar
Background: Intellectual disability (ID) can be inherited in families through consanguineous marriage. The ID in an individual can be associated with the ID, epilepsy, and mental illness in their parents. Such connections can be seen more closely among consanguineous marriages in tribal and nontribal population in India. Objective: This study shows a few common patterns of the consanguineous relationship in the parents of children with ID in India. Materials and Methods: This is a case series research design...
October 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29201470/a-novel-mutation-of-the-cyp11b2-in-a-saudi-infant-with-primary-hypoaldosteronism
#13
Lama Alfaraidi, Abrar Alfaifi, Rawan Alquaiz, Faten Almijmaj, Horia Mawlawi
Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests revealed hyponatremia, hyperkalemia, and metabolic acidosis with high renin and low aldosterone. Blood samples were collected for endocrine and genetic studies. Sequence analysis of the CYP11B2 revealed a T to A transition at position 1398 + 2 in exon 8 of the gene in a homozygous state (c...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29196973/a-novel-homozygous-mutation-in-sptbn2-leads-to-spinocerebellar-ataxia-in-a-consanguineous-family-report-of-a-new-infantile-onset-case-and-brief-review-of-the-literature
#14
Mohammad A Al-Muhaizea, Faten AlMutairi, Rawan Almass, Safinaz AlHarthi, Mazhor S Aldosary, Maysoon Alsagob, Ali AlOdaib, Dilek Colak, Namik Kaya
The objective of this study was the identification of likely genes and mutations associated with an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients with infantile onset, from a consanguineous family. Using genome-wide SNP screening, autozygosity mapping, targeted Sanger sequencing and nextgen sequencing, family segregation analysis, and comprehensive neuropanel, we discovered a novel mutation in SPTBN2. Next, we utilized multiple sequence alignment of amino acids from various species as well as crystal structures provided by protein data bank (PDB# 1WYQ and 1WJM) to model the mutation site and its effect on β-III-spectrin...
December 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/29193663/clinical-and-genetic-characterization-of-ap4b1-associated-spg47
#15
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Since 2011, 11 individuals from six families with AP4B1 mutations have been reported, nine of whom had homozygous mutations and were from consanguineous families...
November 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29193540/the-proportion-of-familial-cases-of-type-1-diabetes-is-increasing-simultaneously-with-the-disease-incidence-eighteen-years-of-the-israeli-pediatric-diabetes-registry
#16
Amnon Zung, Wasef Na'amnih, Yulia Bluednikov, Nisim Mery, Orit Blumenfeld
BACKGROUND: The global rise in incidence of type 1 diabetes (T1D) is too rapid to be attributed to susceptible genetic background, pinpointing a significant role for environmental factors. Unlike the theory that the need for genetic susceptibility has lessened over time, we hypothesized that the rise in T1D incidence is faster in a genetically susceptible population. SUBJECTS AND METHODS: The study population comprised of 5080 patients aged 0 to 17 years who were reported to the National Israel Diabetes Registry between 1997 and 2014...
November 29, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/29192135/encephalocraniocutaneous-lipomatosis-haberland-syndrome
#17
Selçuk Özdoğan, Ceyhun Saymaz, Cumhur Kaan Yaltırık, Hanife Gülden Düzkalır, Mustafa Kaya, Nail Demirel, Ali Haluk Düzkalır, Başar Sarıkaya, Berrin Aktekin
BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs...
December 1, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29191368/a-novel-homozygous-nonsense-mutation-in-nefl-causes-autosomal-recessive-charcot-marie-tooth-disease
#18
Jun Fu, Yun Yuan
The neurofilament light polypeptide (NEFL) gene mutations cause mainly autosomal dominant Charcot-Marie-Tooth disease (CMT) and rarely the recessive forms of CMT. We describe a 13-year-old girl born of consanguineous parents. She presented an early onset of gait disturbance with weakness in lower extremities during the first decade. Nerve conduction velocity of median nerve was 24 m/s and amplitude of compound muscle action potential was 2.2 mV. Sensory nerve action potential was not recordable. Sural nerve biopsy showed severe loss of the large myelinated fibers...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29191164/weighted-likelihood-inference-of-genomic-autozygosity-patterns-in-dense-genotype-data
#19
Alexandra Blant, Michelle Kwong, Zachary A Szpiech, Trevor J Pemberton
BACKGROUND: Genomic regions of autozygosity (ROA) arise when an individual is homozygous for haplotypes inherited identical-by-descent from ancestors shared by both parents. Over the past decade, they have gained importance for understanding evolutionary history and the genetic basis of complex diseases and traits. However, methods to infer ROA in dense genotype data have not evolved in step with advances in genome technology that now enable us to rapidly create large high-resolution genotype datasets, limiting our ability to investigate their constituent ROA patterns...
December 1, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29191078/novel-mutation-in-the-kcnj10-gene-in-three-siblings-with-seizures-ataxia-and-no-electrolyte-abnormalities
#20
Muna A Al Dhaibani, Ayman W El-Hattab, Kathryn B Holroyd, Jennifer Orthmann-Murphy, Valerie A Larson, Khurram A Siddiqui, Miklos Szolics, Nicoline Schiess
We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.
November 30, 2017: Journal of Neurogenetics
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