NDLI: Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.

Please wait, while we are loading the content...

Year: 2017 Volume: 173

Year: 2016 Volume: 170

Year: 2016 Volume: 170A

Year: 2015 Volume: 167A

Year: 2015 Volume: 167

Year: 2014 Volume: 164A

Year: 2013 Volume: 161A

Year: 2013 Volume: 161A Issue: 12

Year: 2013 Volume: 161A Issue: 11

Year: 2013 Volume: 161A Issue: 10

Year: 2013 Volume: 161A Issue: 9

Microdeletion 5q14.3 and anomalies of brain development.

Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.

Novel no-stop FLNA mutation causes multi-organ involvement in males.

A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.

Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.

Endocrine abnormalities in Townes-Brocks syndrome.

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies.

Pure duplication of 19p13.3.

Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: comments on the article by Toriello et al. [2013] and first report of the natural history.

Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study.

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Genetic drift. Three phone calls: a carrier's journey into motherhood.

Narrative medicine: a call to pens.

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Genetic drift. Hospital deliveries.

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, Hashimoto thyroiditis and hirsutism.

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

Severe hypospadias and its association with maternal-placental factors.

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

Adolescents and young adults with Down syndrome presenting to a medical clinic with depression: co-morbid obstructive sleep apnea.

Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

Learning and memory in children with Noonan syndrome.

Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.

Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.

U.S. Supreme Court decision paves way for better genetic testing: ruling bars exclusive licensing, patents on naturally occurring genes.

Global alliance to create standards for sharing genomic data: group supports simplifying system for searches, but privacy a concern.

Year: 2013 Volume: 161A Issue: 8

Year: 2013 Volume: 161A Issue: 7

Year: 2013 Volume: 161A Issue: 6

Year: 2013 Volume: 161A Issue: 5

Year: 2013 Volume: 161A Issue: 4

Year: 2013 Volume: 161A Issue: 3

Year: 2013 Volume: 161A Issue: 2

Year: 2013 Volume: 161A Issue: 1

Year: 2012 Volume: 158A

Year: 2011 Volume: 155A

Year: 2010 Volume: 152A

Year: 2009 Volume: 149A

Year: 2008 Volume: 146A

Year: 2007 Volume: 143A

Year: 2006 Volume: 140

Year: 2005 Volume: 139

Year: 2005 Volume: 139A

Year: 2005 Volume: 138

Year: 2005 Volume: 138A

Year: 2005 Volume: 137A

Year: 2005 Volume: 137

Year: 2005 Volume: 136

Year: 2005 Volume: 135

Year: 2005 Volume: 134

Year: 2005 Volume: 134A

Year: 2005 Volume: 133A

Year: 2005 Volume: 132A

Year: 2004 Volume: 128A

Year: 2004 Volume: 124A

Year: 2003 Volume: 123A

Year: 2003 Volume: 121A

Year: 2003 Volume: 118A

Year: 2003 Volume: 116A

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sarig, Ofer Goldsher, Dorit Nousbeck, Janna Fuchs-Telem, Dana Cohen-Katsenelson, Ksenya Iancu, Theodore C. Manov, Irena Saada, Ann Sprecher, Eli Mandel, Hanna
Description	Country affiliation: Israel Author Affiliation: Sarig O ( Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.)
Abstract	3-Methylglutaconic aciduria (3-MGCA) type IV is defined as a heterogeneous group of inborn errors featuring in common 3-MGCA and associated with primary mitochondrial dysfunction leading to a spectrum of multisystem conditions. We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, sensorineural deafness, encephalopathy and a brain magnetic resonance imaging with signs of Leigh disease. All affected children displayed biochemical features consistent with mitochondrial OXPHOS dysfunction including hepatic mitochondrial DNA depletion in one patient. Homozygosity mapping identified a candidate locus on 6q25.2-6q26. Using whole exome sequencing, we identified two novel homozygous mutations in SERAC1 recently reported to harbor mutations in MEGDEL syndrome. Both mutations were found to lead to decreased or absent expression of SERAC1. The present findings indicate that infantile hepatopathy is a cardinal feature of MEGDEL syndrome. We thus propose to rename the disease MEGDHEL syndrome.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	161A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2013-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Carboxylic Ester Hydrolases Hearing Loss, Sensorineural Leigh Disease Liver Diseases Metabolism, Inborn Errors Mitochondrial Diseases Mutation Diagnosis Brain Pathology Case-control Studies Chromosome Mapping Consanguinity Dna Mutational Analysis Electron Transport Chain Complex Proteins Metabolism Homozygote Humans Infant, Newborn Liver Ultrastructure Magnetic Resonance Imaging Male Microsatellite Repeats Mitochondria Pedigree Polymorphism, Single Nucleotide Syndrome Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in