Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion

Lauren S Akesson^{1

2

3}, David Francis¹, Michelle G de Silva¹, Theresa Cole⁴, Peter Simm^{2

5}, Mark Oliver^{2

6}, Susan M White^{1

2}

Affiliations

¹ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
² Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
³ Parkville Familial Cancer Centre and Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
⁴ Department of Immunology, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁵ Department of Endocrinology, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁶ Department of Gastroenterology, Royal Children's Hospital, Melbourne, Victoria, Australia.

Case Reports

Lauren S Akesson et al. J Paediatr Child Health. 2021 Jul.

. 2021 Jul;57(7):1109-1112.

doi: 10.1111/jpc.15124. Epub 2020 Aug 31.

Lauren S Akesson^{1

2

3}, David Francis¹, Michelle G de Silva¹, Theresa Cole⁴, Peter Simm^{2

5}, Mark Oliver^{2

6}, Susan M White^{1

2}

¹ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
² Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
³ Parkville Familial Cancer Centre and Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
⁴ Department of Immunology, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁵ Department of Endocrinology, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁶ Department of Gastroenterology, Royal Children's Hospital, Melbourne, Victoria, Australia.

No abstract available

References

1. Stark Z, Tan TY, Chong B et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet. Med. 2016; 18: 1090-6.
1. Stark Z, Lunke S, Brett GR et al. Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genet. Med. 2018; 20: 1554-63.
1. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: Diagnosing rare disease in children. Nat. Rev. Genet. 2018; 19: 325.
1. Adam MP, Ardinger HH, Pagon RA et al. GeneReviews®. Seattle, WA: University of Washington; 2019.
1. Firth HV, Richards SM, Bevan AP et al. DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources. Am. J. Hum. Genet. 2009; 84: 524-33.