Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family

doi:10.16352/j.issn.1001-6325.2024.07.0954

Basic & Clinical Medicine ›› 2024, Vol. 44 ›› Issue (7): 954-958.doi: 10.16352/j.issn.1001-6325.2024.07.0954

• Original Articles • Previous Articles Next Articles

Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family

ZHANG Rui¹, TAN Yan², MA Donglai^2*, WANG Rongrong^1*, ZHANG Xue¹

1. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences CAMS, School of Basic Medicine PUMC, Beijing 100005;
2. Department of Dermatology, National Clinical Research Center for Skin and Immune Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, CAMS ＆ PUMC, Beijing 100730, China

Received:2024-03-18 Revised:2024-05-06 Online:2024-07-05 Published:2024-06-26
Contact: ^*mdonglai@sohu.com; rongrongbwl@ibms.pumc.edu.cn

Abstract

Abstract: Objective To identify the pathogenic mutations in a family with piebaldism. Methods Clinical information and peripheral blood were collected from the patient with piebaldism and their parents. Whole exome sequencing was performed to identify the potential pathogenic mutations. QPCR was used to determine the deletion of the target gene, while gap-PCR and Sanger sequencing was used to determine the size and the specific deletion site. Results The proband had a heterozygous deletion mutation of approximately 1.74 Mb located at chromosome 4, including a full length of the pathogenic gene KIT for mottled disease and it was the smallest micro deletion causing isolated piebaldism due to the loss of the KIT. Conclusions The heterozygous deletion including the KIT is a potential cause of the piebaldism phenotype found in this family.

Key words: piebaldism, gene deletion, KIT, gene diagnosis, copy number variation(CNV)

CLC Number:

R596.2

ZHANG Rui, TAN Yan, MA Donglai, WANG Rongrong, ZHANG Xue. Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family[J]. Basic & Clinical Medicine, 2024, 44(7): 954-958.

References 12

[1]	Shah M, Patton E, Zedek D. Piebaldism[M].Treasure Island (FL):StatPearls Publishing, 2024:11-12.
[2]	Thomas I, Kihicazk GG, Fox MD, et al. Piebaldism: an update[J]. Int J Dermatol, 2004, 43: 716-719.
[3]	Murakami T, Hosomi N, Oiso N, et al. Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism[J]. J Invest Dermatol, 2005, 124: 670-672.
[4]	Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism[J]. Proc Natl Acad Sci U S A, 1991, 88: 8696-8699.
[5]	Yang YJ, Zhao R, He XY, et al. SNAI2 mutation causes human piebaldism[J]. Am J Med Genet A, 2014, 164A: 855-857.
[6]	Oiso N, Kishida K, Fukai K, et al. A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene[J]. Br J Dermatol, 2009, 161: 468-469.
[7]	Spritz RA. Molecular basis of human piebaldism[J]. J Invest Dermatol, 1994, 103(5 Suppl): 137S-140S.
[8]	Oiso N, Fukai K, Kawada A, et al. Piebaldism[J]. J Dermatol, 2013, 40: 330-335.
[9]	Fleischman RA, Saltman DL, Stastny V, et al. Deletion of the c-kit protooncogene in the human developmental defect piebald trait.[J]. Proc Natl Acad Sci U S A, 1991, 88: 10885-10889.
[10]	Spritz RA, Droetto S, Fukushima Y. Deletion of the KIT and PDGFRA genes in a patient with piebaldism[J]. Am J Med Genet, 1992, 44: 492-495.
[11]	Arasimavičius J, Dilytė E, Utkus A, et al. A familial 4q12 deletion involving KIT gene causes piebaldism[J]. Acta Dermatovenerol Croat: ADC, 2020, 28: 105-108.
[12]	Hemati P, Du Souich C, Boerkoel CF. 4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency[J]. Am J Med Genet A, 2015, 167: 231-237.

Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family

PDF

Knowledge

Abstract

Cite this article

share this article

References 12

Related Articles 2

Recommended Articles

Metrics

Comments

[1]	. High resolution melting applied to the mutation identification in a family with Wilson’s disease [J]. Basic & Clinical Medicine, 2016, 36(2): 218-221.
[2]	Yang YAN; Xiao-feng YANG; Fu-hua YIN; Sheng-nan HUANG. DMD gene defection analysis of 135 patients of duchenne muscular dystrophy [J]. Basic & Clinical Medicine, 2009, 29(8): 872-874.