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Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis

Nadia Soltani¹, Zahra Bayati², Mohsen Soosanabadi³

¹Student Research Committee, School of Medicine Arak University of Medical Sciences Arak Iran.

Clinical Case Reports

|February 9, 2026

Insights

Harlequin ichthyosis (HI) is a severe skin disorder caused by ABCA12 gene mutations. Researchers identified a novel mutation in an Iranian infant, aiding genetic diagnosis and counseling for affected families.

Area of Science:

Genetics
Dermatology
Molecular Biology

Background:

Harlequin ichthyosis (HI) is a rare, severe genetic skin disorder.
HI presents with dense, diamond-shaped skin plates, leading to thermoregulation and hydration issues.
Mutations in the ABCA12 gene are the primary cause of HI.

Purpose of the Study:

To identify the genetic cause of HI in an Iranian infant.
To characterize a novel ABCA12 gene mutation.
To enhance understanding of HI's molecular basis and genetic counseling.

Main Methods:

Whole-exome sequencing was used for genetic analysis.
The study involved an Iranian infant diagnosed with HI and their asymptomatic parents.
Mutation analysis focused on the ABCA12 gene.

Main Results:

A novel homozygous mutation (c.4702_4706del, p.(Leu1568IlefsTer5)) in the ABCA12 gene was identified in the affected infant.
The same mutation was found in a heterozygous state in the parents, indicating carrier status.
This specific mutation has not been previously reported in HI cases.

Conclusions:

The identified novel ABCA12 mutation is the likely cause of HI in this family.
This finding aids in carrier identification and supports genetic counseling for families with a history of HI.
Prenatal genetic screening is crucial for families at risk of Harlequin ichthyosis.

Read full analysis

Abstract:

Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond-shaped plates that cover a significant portion of their bodies. Infants with this disease have difficulty regulating body temperature and maintaining hydration, leading to respiratory failure and feeding problems, making them more vulnerable to infections. Most patients die shortly after birth because of these clinical symptoms. Scientific evidence has shown that a mutation in the ABCA12 gene is the principal underlying cause of HI. Using whole-exome sequencing, we identified a novel mutation in an Iranian infant with HI. This case presented with characteristic cutaneous manifestations, leading to the discovery of a novel homozygous mutation in the ABCA12 gene. This specific mutation [c.4702_4706del, p.(Leu1568IlefsTer5)] has not been reported in any other cases of harlequin ichthyosis and was detected in a heterozygous state in asymptomatic parents. The insights gained from analyzing this family enhance our understanding of the disease's molecular origin, aid in carrier identification, support genetic counseling, and emphasize the importance of prenatal genetic screening for families with a history of HI.

Keywords:

ABCA12 harlequin ichthyosis mutation whole exome sequencing

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