NDLI: A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

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

Year: 2017 Volume: 173

Year: 2016 Volume: 170

Year: 2016 Volume: 170A

Year: 2016 Volume: 170A Issue: 5

Year: 2016 Volume: 170A Issue: 4

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.

Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

Family perspectives about Down syndrome.

FTO variant associated with malformation syndrome.

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up.

Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention.

9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition.

Long-term treatment of neurofibromatosis 1 with ketotifen. A report of three cases.

Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.

Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?

Muenke syndrome: An international multicenter natural history study.

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.

Letter to the editor: Response to two recent articles regarding achondroplasia.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.

12th International CHARGE syndrome conference proceedings.

Response: 'Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy' and 'Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?'.

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Trisomy 4 mosaicism: Delineation of the phenotype.

Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?

Precision medicine company takes aim at genetically based epilepsy: Pairnomix offers individualized genetic research services.

Spectrum of gene variants linked to cystic fibrosis in nonwhites: Research finds certain screening panels may be inadequate.

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Year: 2016 Volume: 170A Issue: 2

Year: 2016 Volume: 170A Issue: 1

Year: 2015 Volume: 167A

Year: 2015 Volume: 167

Year: 2014 Volume: 164A

Year: 2013 Volume: 161A

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

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ha, Thuong T. Sadleir, Lynette G. Mandelstam, Simone A. Paterson, Sarah J. Scheffer, Ingrid E. Gecz, Jozef Corbett, Mark A.
Description	Country affiliation: Australia Author Affiliation: Ha TT ( School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.); Sadleir LG ( Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South, New Zealand.); Mandelstam SA ( Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.); Paterson SJ ( Department of Radiology, University of Melbourne, Royal Children's Hospital Parkville, Melbourne, Victoria, Australia.); Scheffer IE ( Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia.); Gecz J ( Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South, New Zealand.); Corbett MA ( Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.)
Abstract	Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability, and focal epilepsy. Families with mutations in COL4A2 are now emerging with a similar phenotype. We describe a family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities, which was negative for mutations in COL4A1. Using whole exome sequencing of three affected individuals from three generations, we identified a rare variant in COL4A2. This COL4A2 (c.2399G>A, p.G800E, CCDS41907.1) variant was predicted to be damaging by multiple bioinformatics tools and affects an invariable glycine residue that is essential for the formation of collagen IV heterotrimers. The cataracts identified in this family expand the phenotypic spectrum associated with mutations in COL4A2 and highlight the increasing overlap with phenotypes associated with COL4A1 mutations.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Journal	American Journal of Medical Genetics Part A
Volume Number	170A
e-ISSN	15524833
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2016-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
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