학술논문
A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
이용수 10
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Jihye Kim Jung Min Ko Seung Han Shin Ee-Kyung Kim Han-Suk Kim
- 간행물 정보
- 『대한의학유전학회지』제16권 제2호, 62~66쪽, 전체 5쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2019.12.30
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국문 초록
영문 초록
Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is characterized by a typical appearance of generalized, thick, yellowish, hyperkeratotic plates with deep erythematous fissures on the skin. Herein, we present the case of a newborn girl with HI that was genetically confirmed by targeted gene panel analysis. The premature baby was encased in an opaque white membrane with erosion covering the skin of the entire body except the lips, with her hands and feet restricted by the membrane. Humidification, emollient, and retinoic acid treatment were started; the thick ichthyosis gradually peeled off and the underlying skin was only covered with thin scales. Targeted gene panel analysis using next-generation sequencing and validation with Sanger sequencing and quantitative polymerase chain reaction analyses confirmed compound heterozygous mutations of the ABCA12 gene (p.N1380S and a partial gene deletion encompassing exon 9). The parents were carriers for each of the identified mutations. Early recognition of the genetic etiology of congenital ichthyosis can, thus, facilitate genetic counseling for patients and their families.
목차
Introduction
Case
Discussion
References
해당간행물 수록 논문
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- A familial case of limb-girdle muscular dystrophy with CAV3 mutation
- Periventricular nodular heterotopia in a child with a mild Mowat-Wilson phenotype caused by a novel missense mutation of ZEB2
- A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
- A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
- Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review
- Identification of Potocki-Lupski syndrome in patients with developmental delay and growth failure
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