Objective: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation (FPHH).
Methods: Clinical data and family history for a child with FPHH were collected. Peripheral blood samples were collected from the child, his parents and two sisters. Following the extraction of DNA, high-throughput sequencing was carried out to screen for genetic variant associated with the disease. Candidate variant was verified by Sanger sequencing of his family members.
Results: The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation. High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene, which was unreported previously. Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree.
Conclusion: For infants with progressive skin pigmentation and hypopigmentation spots, FPHH should be suspected. The heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene probably underlay the FPHH in this pedigree.
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