Description:
KEARNS-SAYRE SYNDROME; KSS
COMPLEX I, SUBUNIT ND4; MTND4
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of the Mitochondrial Genome |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
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DNA from LCL
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
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Homo sapiens
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Common Name
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Human
|
Remarks
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|
Gene |
MTND4 |
Chromosomal Location |
NA |
Allelic Variant 1 |
516003.0001; LEBER OPTIC ATROPHY |
Identified Mutation |
MTND4*LHON11778A; The allele changes the highly conserved arginine at amino acid 340 to a histidine (R340H). This allele accounts for 50% of LHON cases among Caucasians and over 90% of the cases in Asians. |
Remarks |
Clinically affected with Kearns-Sayre syndrome; frequent episodes of dehydration between ages 2-3; poor growth started about age 2-3; small stature diagnosed at age 5; by age 11 there was pigmentary retinopathy, absent deep tendon reflexes, 2/4 weakness of the proximal muscles of the shoulders and hips, weakness of the trapezius group, and ocular muscle weakness; dry and course skin and hair; mild bilateral high frequency sensorineural hearing loss; growth hormone deficiency; hypopituitarism; ptosis; nystagmus; strabismus; occasional diplopia; no heart block; lymphoblasts from the donor subject (collected at age 12) underwent mitochondrial DNA mutation analysis: no large deletion was identified in the lymphoblastoid cell line but a mutation commonly seen in subjects with Leber’s Hereditary Optic Neuropathy was identified; donor subject was found to carry a G>A transition at nucleotide 11778 in the MTND4 gene of the mitochondrial genome [11778G>A] resulting in a substitution of histidine for arginine at codon 340 [Arg340His(R340H)]. |
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