A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing

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Figure 1
Chromatogram sequences showing homozygous variance in the index patient and heterozygous in parents.

Table 1

A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.

Dates	Relevant past medical history and intervention
16.05.2017	8 years old boy who is a product of full term pregnancy, referred to the immunology clinic to role out any associated with primary immunodeficiency. Patient with history wide ataxic and failure to thrive.

Date	Summaries initial and follow-up visits	Diagnostic testing (including dates)	Interventions

2015-2016	During the whole years of 2016 patient have 6-7 episodes of upper respiratory tract infection	No exact date or specific test or other investigation that parent can recall (patient from outside Riyadh).	None
2016	History of diarrhea on and off in year 2016	No exact or specific test or other investigation that parent can recall (patient from outside Riyadh	None
26.04.2017	History wide ataxic gait	MRI Brain shows mild atrophic changes within the hemispheres	None (follow-up in the clinic)
16.05.2017	Because of history of recurrent URTI as past medical history	Blood sent for FBC and differential which showed normal WBCs count and normal diff Serum immunoglobulin level: IgM=1.26g/l, IgG=10.2g/l l and Ig A=<0.25g/l	None
14.06.2017	For the above history ataxia telangiectasia need to rolled out	Blood sent or molecular genetics study which showed premature stop codon variant (c.5944C>T, p Gln1982*)	Genetic counseling for the parents

MRI - magnetic resonance imaging, FBC - Full Blood Count, IgA - immunoglobulin A, IgG - immunoglobulin G, IgM - immunoglobulin M, URTI - upper respiratory tract infection, WBC - White Blood Cell