Description:
KEARNS-SAYRE SYNDROME; KSS
COMPLEX I, SUBUNIT ND4; MTND4
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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 |
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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
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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Molecular characterization after cell line submission to CCR
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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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| 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)]. |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
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