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NA04663 DNA from Fibroblast

Description:

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
ASPARTOACYLASE; ASPA

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed within the first year of life; born at 36 weeks and small for gestational age (BW=1.69 kg); hypotonia and poor suck in neonatal period; questionable seizure in neonatal period; absent fungiform papillae on tongue; absent deep tendon reflexes; skin blotching; hyperhidrosis; alacrima; sluggish corneal reflexes; no flare response to histamine test; good linear growth; pneumonia; air swallowing; developmental delay; tongue thrusting; corneal ulcers; acrocyanosis; weak, hoarse cry; searching nystagmus when drinking; high palate; small umbilical hernia; at 25 months, BUN normal for age (5); poor coordination; constipation; vomits mucous and bile after meals; poor head control; extraneous movements and alternating low and high tone periods; no breath holding; hospitalized for diarrhea on at least one occasion; father is GM04664; mother is GM04665; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T [Tyr231Tyr (Y231Y)]

Characterizations

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PDL at Freeze 5.31
Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene IKBKAP
Chromosomal Location 9q31
Allelic Variant 1 603722.0001; FAMILIAL DYSAUTONOMIA
Identified Mutation c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia.
 
Gene ASPA
Chromosomal Location 17pter-p13
Allelic Variant 1 Y231Y; CANAVAN DISEASE SILENT POLYMORPHISM
Identified Mutation TYR231TYR; In Ashkenazi Jewish patients with Canavan disease (271900), Kaul et al. (1994) identified a 693C-A nonsense mutation in exon 5 of the ASPA gene (Y231X). They also identified a silent polymorphism, 693C/T. Expression of the mutation in COS-1 cells showed a complete loss of ASPA enzyme activity.
 
Gene IKBKAP
Chromosomal Location 9q31
Allelic Variant 2 603722.0001; FAMILIAL DYSAUTONOMIA
Identified Mutation c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia.

Phenotypic Data

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Remarks Clinically affected; diagnosed within the first year of life; born at 36 weeks and small for gestational age (BW=1.69 kg); hypotonia and poor suck in neonatal period; questionable seizure in neonatal period; absent fungiform papillae on tongue; absent deep tendon reflexes; skin blotching; hyperhidrosis; alacrima; sluggish corneal reflexes; no flare response to histamine test; good linear growth; pneumonia; air swallowing; developmental delay; tongue thrusting; corneal ulcers; acrocyanosis; weak, hoarse cry; searching nystagmus when drinking; high palate; small umbilical hernia; at 25 months, BUN normal for age (5); poor coordination; constipation; vomits mucous and bile after meals; poor head control; extraneous movements and alternating low and high tone periods; no breath holding; hospitalized for diarrhea on at least one occasion; father is GM04664; mother is GM04665; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T [Tyr231Tyr (Y231Y)]

Publications

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Anderson SL, Fasih-Ahmad F, Evans AJ, Rubin BY, Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial Dysautonomia (FD) patient-derived cells and healthy adults: a possible therapy for FD Human molecular genetics: 2022
PubMed ID: 35708500
 
Even A, Morelli G, Turchetto S, Shilian M, Bail RL, Laguesse S, Krusy N, Brisker A, Brandis A, Inbar S, Chariot A, Saudou F, Dietrich P, Dragatsis I, Brone B, Broix L, Rigo JM, Weil M, Nguyen L, ATP-citrate lyase promotes axonal transport across species Nature communications12:5878 2020
PubMed ID: 34620845
 
Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA, A deep learning approach to identify gene targets of a therapeutic for human splicing disorders Nature communications12:3332 2020
PubMed ID: 34099697
 
Maková B, Mik V, Lišková B, Gonzalez G, Vítek D, Medvedíková M, Monfort B, Rucilová V, Kadlecová A, Khirsariya P, Gándara Barreiro Z, Havlícek L, Zatloukal M, Soural M, Paruch K, D'Autréaux B, Hajdúch M, Strnad M, Voller J, Cytoprotective activities of kinetin purine isosteres Bioorganic & medicinal chemistry33:115993 2020
PubMed ID: 33497938
 
Bruun GH1, Bang JM1, Christensen LL1, Brøner S1, Petersen US1, Guerra B1, Grønning AG1, Doktor TK1, Andresen BS, Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells Nucleic Acids Research33:115993 2018
PubMed ID: 29762696
 
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA, ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia American journal of human genetics104:638-650 2018
PubMed ID: 30905397

External Links

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dbSNP dbSNP ID: 20413
Gene Cards ASPA
ELP1
IKBKAP
Gene Ontology GO:0004046 aminoacylase activity
GO:0004871 signal transducer activity
GO:0006461 protein complex assembly
GO:0006468 protein amino acid phosphorylation
GO:0006533 aspartate catabolism
GO:0006955 immune response
GO:0008152 metabolism
GO:0008607 phosphorylase kinase regulator activity
GO:0016788 hydrolase activity, acting on ester bonds
GO:0019807 aspartoacylase activity
NCBI Gene Gene ID:443
Gene ID:8518
NCBI GTR 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
603722 ELONGATOR COMPLEX PROTEIN 1; ELP1
608034 ASPARTOACYLASE; ASPA
OMIM 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
603722 ELONGATOR COMPLEX PROTEIN 1; ELP1
608034 ASPARTOACYLASE; ASPA
Omim Description DYSAUTONOMIA, FAMILIAL; DYS
  FD
  HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY III
  HSAN-III
  RILEY-DAY SYNDROME
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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