Journal article
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
BMC medical genetics, Vol.19(1), pp.41-41
03/09/2018
DOI: 10.1186/s12881-018-0556-2
PMCID: PMC5845372
PMID: 29523099
Abstract
Background: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis.
Case presentation: We describe a patient presenting clinical features reminiscent of AEC syndrome in addition to recurrent infections suggestive of immune deficiency. Genetic testing for TP63, IRF6 and RIPK4 was negative. Microarray analysis revealed a 2 MB deletion on chromosome 1 (1q21.1q21.2). Clinical exome sequencing uncovered compound heterozygous variants in CHUK; a maternally-inherited frameshift variant (c.1365del, p.Arg457Aspfs*6) and a de novo missense variant (c.1388C > A, p.Thr463Lys) on the paternal allele.
Conclusions: To our knowledge, this is the fourth family reported with CHUK-deficiency and the second patient with immune abnormalities. This is the first case of CHUK-deficiency with compound heterozygous pathogenic variants, including one variant that arose de novo. In comparison to cases found in the literature, this patient demonstrates a less severe phenotype than previously described.
Details
- Title: Subtitle
- Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
- Creators
- Maxime Cadieux-Dion - Mercy HospitalNicole P. Safina - Children's Mercy HospitalKendra Engleman - Children's Mercy HospitalCarol Saunders - University of Missouri–Kansas CityElena Repnikova - Children's Mercy HospitalNikita Raje - Children's Mercy HospitalKristi Canty - Mercy HospitalEmily Farrow - Mercy HospitalNeil Miller - Mercy HospitalLee Zellmer - Sisters of Mercy Health SystemIsabelle Thiffault - Children's Mercy Hospital
- Resource Type
- Journal article
- Publication Details
- BMC medical genetics, Vol.19(1), pp.41-41
- DOI
- 10.1186/s12881-018-0556-2
- PMID
- 29523099
- PMCID
- PMC5845372
- NLM abbreviation
- BMC Med Genet
- ISSN
- 1471-2350
- eISSN
- 1471-2350
- Publisher
- Springer Nature
- Number of pages
- 6
- Grant note
- W.T. Kemper Foundation Children's Mercy - Kansas City Patton Trust Black Veatch Claire Giannini Foundation Marion Merrell Dow Foundation Pat & Gil Clements Foundation
- Language
- English
- Date published
- 03/09/2018
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354153402771
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