NA16192
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED)
FUKUTIN; FKTN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY.ish 17(LIS1x2,RARAx2)
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
FKTN |
| Chromosomal Location |
9q31 |
| Allelic Variant 1 |
I129fsX1; WALKER-WARBURG SYNDROME |
| Identified Mutation |
385delA |
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| Gene |
FKTN |
| Chromosomal Location |
9q31 |
| Allelic Variant 2 |
Y392X; WALKER-WARBURG SYNDROME |
| Identified Mutation |
TYR392TER |
| Remarks |
Clinically affected; foreskin; type II lissencephaly; congenital myotonic dystrophy; hydrocephalus indicated in utero by MRI; no aqueductal stenosis by post-natal MRI/CT; vermis hypoplasia; absent septum pellucidum; CPK = 2,200 u/ml; retinal exam showed vitreous hemorrhage but no pigmentary retinopathy; hypertonia; karyotype is 46,XY.ish 17(LIS1x2,RARAx2); donor is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 385 in exon 5 of the FKTN gene (c.385delA) resulting in a frameshift and creation of a stop at codon 129 (I129fsX1); the second allele has a C>A transversion at nucleotide 1176 in exon 10 (c.1176C>A) resulting in a stop at codon 392 [Tyr392Ter (Y392X)] |
| Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP., ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet.44(5):575-80 2012 |
| PubMed ID: 22522420 |
| Gene Cards |
FKTN |
| Gene Ontology |
GO:0005615 extracellular space |
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GO:0005794 Golgi apparatus |
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GO:0007399 neurogenesis |
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GO:0007517 muscle development |
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GO:0016021 integral to membrane |
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GO:0016740 transferase activity |
| NCBI Gene |
Gene ID:2218 |
| NCBI GTR |
253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
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607440 FUKUTIN; FKTN |
| OMIM |
253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
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607440 FUKUTIN; FKTN |
| Omim Description |
CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE |
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FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD |
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MICROPOLYGYRIA WITH MUSCULAR DYSTROPHYFUKUTIN, INCLUDED |
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MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION |
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MUSCULAR DYSTROPHY, CONGENITAL, FUKUYAMA TYPE |
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MUSCULAR DYSTROPHY, CONGENITAL, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT |
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