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A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD
Joint Authors
Jibril, Ula
Uebe, Steffen
Reuter, Miriam
Schumacher, Johannes
Abu Jamrah, Rami
Reis, Andre
Source
Egyptian Pediatric Association Gazette
Issue
Vol. 64, Issue 4 (31 Dec. 2016), pp.171-176, 6 p.
Publisher
Egyptian Pediatric Association
Publication Date
2016-12-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Topics
Abstract EN
We report a family with two siblings having features of infantile neuroaxonal dystrophy (INAD), with first degree consanguineous parents.
Rapid progressive loss of developing milestones (started from 18 months) and early infantile death of both siblings occurred.
Brain magnetic resonance imaging (MRI) revealed severe rapidly progressive cerebellar atrophy initially reported as early as 18 months, with the younger brother suffered generalized tonic clonic seizures.
Next generation sequencing revealed a new mutation in PLA2G6 gene (c.319 del C, p.
Leu107 Cyst), resulting in a premature stop codon with shift in the reading frame of resulting protein.
Conclusion: Early onset loss of developmental milestones with cerebellar atrophy and other described clinical findings ultimately warrant PLA2G6 gene sequencing.
Here we report c.319 del.
C of PLA2G6 detected by next generation sequencing to be responsible for severe early infantile neuroaxonal dystrophy with early infantile death.
We conclude that various PLA2G6 gene sites sequencing need further investigation in INAD in line with clinical correlation.
Also INAD seems to be an unrecognized disorder that needs more categorization for proper diagnosis and genetic counselling.
American Psychological Association (APA)
Jibril, Ula& Uebe, Steffen& Reuter, Miriam& Schumacher, Johannes& Abu Jamrah, Rami& Reis, Andre. 2016. A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD. Egyptian Pediatric Association Gazette،Vol. 64, no. 4, pp.171-176.
https://search.emarefa.net/detail/BIM-761318
Modern Language Association (MLA)
Jibril, Ula…[et al.]. A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD. Egyptian Pediatric Association Gazette Vol. 64, no. 4 (Dec. 2016), pp.171-176.
https://search.emarefa.net/detail/BIM-761318
American Medical Association (AMA)
Jibril, Ula& Uebe, Steffen& Reuter, Miriam& Schumacher, Johannes& Abu Jamrah, Rami& Reis, Andre. A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD. Egyptian Pediatric Association Gazette. 2016. Vol. 64, no. 4, pp.171-176.
https://search.emarefa.net/detail/BIM-761318
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 176
Record ID
BIM-761318