Ann Lab Med.  2014 Jan;34(1):80-84. 10.3343/alm.2014.34.1.80.

Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene

• Jeong H
• Huh HJ
• Youn J
• Kim JS
• Cho JW
• Ki CS

• KMID: 1781368
• DOI: http://doi.org/10.3343/alm.2014.34.1.80

Abstract

No abstract available.

MeSH Terms

Adolescent
Ataxia Telangiectasia/*genetics
Ataxia Telangiectasia Mutated Proteins/*genetics
Base Sequence
Chromosome Inversion
Chromosomes, Human, Pair 14/genetics
Chromosomes, Human, Pair 7/genetics
DNA Mutational Analysis
Female
Humans
Karyotyping
Magnetic Resonance Imaging
Mutation
RNA Splicing
Translocation, Genetic
Ataxia Telangiectasia Mutated Proteins

Figure

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  Fig. 1 Bilateral ocular telangiectasias. (A) Right eye. (B) Left eye.

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  Fig. 2 Sagittal T1-weighted magnetic resonance image of the patient's brain. Pronounced cerebellar atrophy is evident.

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  Fig. 3 Giemsa-banded karyograms of the peripheral blood lymphocyte culture. (A) 46,XX,t(7;14)(q32;q11.2). (B) 46,XX,t(7;14)(p15.1;q11.2). (C) 46,XX,inv(7)(p1?q3?). Arrows indicate the breakpoints on each chromosome.

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  Fig. 4 Genomic DNA sequence analysis of the ATM gene in the patient and in her parents. (A) The solid arrow indicates a heterozygous A>C transition (c.3154-2A>C). (B) The open arrow indicates a heterozygous A>C transition (c.7090-2A>C).

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  Fig. 5 Molecular effects of the c.3154-2A>C mutation. (A) The cDNA sequence from a normal control, and schematic representation of normal/aberrant mRNA splicing of the ATM gene. (B) The cDNA sequence from the patient. (C) The predicted amino acid sequence (inserted nucleotides are shaded).Abbreviation: TA, thymine/adenine.

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  Fig. 6 Molecular effects of the c.7090-2A>C mutation. (A) The cDNA sequence from a normal control, and schematic representation of normal/aberrant mRNA splicing of the ATM gene. (B) The cDNA sequence from the patient. (C) The predicted amino acid sequence (deleted nucleotides are shaded).Abbreviation: TA, thymine/adenine.

Reference

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