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GM16192 Fibroblast

Description:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED)
FUKUTIN; FKTN

Affected:

Yes

Sex:

Male

Age:

1 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
Class Congenital Muscle Diseases
Class Disorders of the Nervous System
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY.ish 17(LIS1x2,RARAx2)
Species Homo sapiens
Common Name Human
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)]

Characterizations

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Passage Frozen 1
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene FKTN
Chromosomal Location 9q31
Allelic Variant 1 I129fsX1; WALKER-WARBURG SYNDROME
Identified Mutation 385delA
 
Gene FKTN
Chromosomal Location 9q31
Allelic Variant 2 Y392X; WALKER-WARBURG SYNDROME
Identified Mutation TYR392TER

Phenotypic Data

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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)]

Publications

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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

External Links

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Gene Cards FKTN
Gene Ontology GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0007399 neurogenesis
GO:0007517 muscle development
GO:0016021 integral to membrane
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
607440 FUKUTIN; FKTN
OMIM 253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
607440 FUKUTIN; FKTN
Omim Description CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE
  FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD
  MICROPOLYGYRIA WITH MUSCULAR DYSTROPHYFUKUTIN, INCLUDED
  MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION
  MUSCULAR DYSTROPHY, CONGENITAL, FUKUYAMA TYPE
  MUSCULAR DYSTROPHY, CONGENITAL, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT

Culture Protocols

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Passage Frozen 1
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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