Abstract
Background:
Autosomal recessive woolly hair (ARWH) is a rare genetic disorder characterized by tightly curled, sparse hair with variable degrees of hypopigmentation and slow growth. Pathogenic variants in the LIPH gene are a major cause, but information on Chinese patients remains limited.
Methods:
Six unrelated patients with congenital woolly hair were analyzed. Clinical features were assessed by examination, trichoscopy, and scalp biopsy. Whole-exome sequencing (WES) and Sanger confirmation were performed, and variants were classified according to ACMG guidelines.
Results:
All patients presented with sparse, curly hair since early childhood. WES identified biallelic LIPH variants in all cases. Three patients were homozygous for c.742C>A (p.H248N), one was homozygous for c.454G>A (p.G152R), and two were compound heterozygotes. Patients carrying the c.454G>A (p.G152R) variant tended to show milder hair loss compared with those with c.742C>A (p.H248N), suggesting a potential genotype-phenotype relationship.
Conclusion:
This study broadens the understanding of LIPH-related ARWH in the Chinese population. The c.454G>A (p.G152R) variant may represent a recurrent allele among Chinese patients with ARWH.
Keywords:
Chinese population; LIPH gene; autosomal recessive woolly hair; genotype-phenotype correlation; hypotrichosis.