MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.

Simple item page
dc.contributor.authorSaleem, Rashid
dc.contributor.authorSetty, Gururaj
dc.contributor.authorHussain, Nahin
dc.date.accessioned2013-08-01T09:10:59Z
dc.date.available2013-08-01T09:10:59Z
dc.date.issued2013-01
dc.description.abstractMICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH) analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.en_US
dc.identifier.citationSaleem Rashid, Setty Gururaj, Hussain Nahin. MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. Indian Journal of Human Genetics. 2013 Jan; 19(1): 104-107.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/147647
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722619/?report=classicen_US
dc.subjectArray-comparative genomic hybridizationen_US
dc.subjectcalcium/calmodulin-dependent serine protein kinase geneen_US
dc.subjectmicrocephalyen_US
dc.subjectX-chromosome inactivationen_US
dc.subjectX-linked neurodevelopmental delayen_US
dc.subject.meshAsian Continental Ancestry Group
dc.subject.meshCalcium-Calmodulin-Dependent Protein Kinases --genetics
dc.subject.meshCerebellar Diseases --congenital
dc.subject.meshCerebellar Diseases --epidemiology
dc.subject.meshCerebellar Diseases --genetics
dc.subject.meshCerebellar Diseases --radiography
dc.subject.meshChromosomes, Human, X
dc.subject.meshComparative Genomic Hybridization --methods
dc.subject.meshDevelopmental Disabilities --genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshMicrocephaly --epidemiology
dc.subject.meshMicrocephaly --genetics
dc.subject.meshMicrocephaly --radiography
dc.subject.meshPhenotype
dc.subject.meshPons --abnormalties
dc.subject.meshPons --epidemiolgy
dc.subject.meshPons --genetics
dc.subject.meshPons --radiography
dc.subject.meshX Chromosome Inactivation
dc.titleMICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
ijhg2013v19n1p104.pdf
Size:
325.05 KB
Format:
Adobe Portable Document Format
Description:
Journal article
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Indian Journal of Human Genetics