[Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].

Abstract

OBJECTIVE:

To investigate the clinical manifestation and mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).

METHODS:

Sequence variants of the entire coding exons of ATM gene were tested using polymerase chain reaction (PCR), reverse transcription-polymerase chain reaction (RT-PCR), polyacrylamide gel electrophoresis (PAGE) and DNA direct sequencing in two Chinese patients clinically diagnosed as AT.

RESULTS:

The clinical characteristics of two AT patients were progressive cerebellar ataxia with ages at onset of childhood, ocular-cutaneous telangiectasia and recurrent pulmonary infection due to immuno-deficiency; the serum alpha fetoprotein (AFP) levels were higher than normal, the serum immunoglobin IgA and IgG levels were lower than normal; brain MRI showed cerebellar atrophy, brain SPECT showed cerebellar regional cerebral blood flow (rCBF) hypoperfusion to a certain degree. Totally three nucleotide changes were identified. A missense mutation of G1346C in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of G610T in exon 6 combined with a missense mutation of C6679T in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.

CONCLUSION:

We have made gene diagnoses for two Chinese AT patients, in which three novel ATM gene mutations were identified.

• Authors: Hong Jiang, Bei-sha Tang, Zheng-mao Hu, Kun Xia, Bo Xu, Jian-guang Tang
• Journal: Zhonghua yi xue za zhi (Zhonghua Yi Xue Za Zhi) Vol. 85 Issue 16 Pg. 1117-20 (Apr 27 2005) ISSN: 0376-2491 [Print] China
• PMID: 16029571 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cell Cycle Proteins
• DNA-Binding Proteins
• Tumor Suppressor Proteins
• ATM protein, human
• Ataxia Telangiectasia Mutated Proteins
• Protein Serine-Threonine Kinases

Topics

• Ataxia Telangiectasia (genetics)
• Ataxia Telangiectasia Mutated Proteins
• Base Sequence
• Cell Cycle Proteins (genetics)
• Child
• DNA Mutational Analysis
• DNA-Binding Proteins (genetics)
• Female
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Protein Serine-Threonine Kinases (genetics)
• Tumor Suppressor Proteins (genetics)