NA06331
DNA from Fibroblast
Description:
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1
TTDN1 GENE; TTDN1 (C7ORF11)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17381 [TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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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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Ethnicity
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MOROCCAN
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Family Member
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1
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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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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 |
4 |
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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 |
TTDN1 |
| Chromosomal Location |
7p14 |
| Allelic Variant 1 |
609188.0002; TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 |
| Identified Mutation |
2-BP DEL,187GG; Nakabayashi et al. (Am J Hum Genet 76:510-516, 2005) found that sibs of Moroccan origin with nonphotosensitive trichothiodystrophy (234050), described by Przedborski et al. (Am J Med Genet 35:566-573, 1990), had a homozygous 2-bp deletion in exon 1 of the C7ORF11 gene (187_188delGG), predicted to result in a 57-amino acid truncated protein. The patients were considered likely to be null for the C7ORF11 gene, which might explain their more severe neurologic phenotype in comparison with that of Amish patients with mutations in the same gene. |
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| Gene |
TTDN1 |
| Chromosomal Location |
7p14 |
| Allelic Variant 2 |
609188.0002; TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 |
| Identified Mutation |
2-BP DEL,187GG; Nakabayashi et al. (Am J Hum Genet 76:510-516, 2005) found that sibs of Moroccan origin with nonphotosensitive trichothiodystrophy (234050), described by Przedborski et al. (Am J Med Genet 35:566-573, 1990), had a homozygous 2-bp deletion in exon 1 of the C7ORF11 gene (187_188delGG), predicted to result in a 57-amino acid truncated protein. The patients were considered likely to be null for the C7ORF11 gene, which might explain their more severe neurologic phenotype in comparison with that of Amish patients with mutations in the same gene. |
| Remarks |
Moroccan; consanguineous parents; growth and mental deficiency (IQ 25-40); brittle hair; absent puberty microcephaly; alopecia; hypotonia; 2 affected siblings; normal urinary organic acids and plasma biotinidase activity; donor subject is homozygous for a 2 bp deletion at nucleotide 187 (187_188delGG) in exon 1 of the C7ORF11 (TTDN1) gene resulting in a 57 amino acid truncated protein |
| Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW, Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy American journal of human genetics76:510-6 2004 |
| PubMed ID: 15645389 |
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