A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

Abstract Background Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most promi...

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Autores principales:	Yue Li, Yumeng Wang, Yan Ming, Pan Chaolan, Zhang Jia, Ni Cheng, Cao Qiaoyu, Ming Li, Xu Tianyi
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Pachyonychia congentia (PC) Keratin 6A Mosaicism Whole exome sequencing SNaPshot sequencing HiSeq deep sequencing Internal medicine RC31-1245 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/6128d309cfd3491c90e35bd8d917f942
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spelling	oai:doaj.org-article:6128d309cfd3491c90e35bd8d917f9422021-11-07T12:06:36ZA KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report10.1186/s12920-021-01109-41755-8794https://doaj.org/article/6128d309cfd3491c90e35bd8d917f9422021-11-01T00:00:00Zhttps://doi.org/10.1186/s12920-021-01109-4https://doaj.org/toc/1755-8794Abstract Background Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most prominent manifestation is plantar pain. This is a further unusual case of parental mosaicism in PC. Although very rare, germ cell mosaicism should be considered when providing genetic counselling for unaffected parents of a child with PC. Case presentation We report the case of a 5-year-old boy with thickening nails and oral leukokeratosis at birth. He began to develop palmoplantar keratoderma at 2 years old and his sister has similar clinical manifestation characterized with nail discoloration and thickening. A previously reported heterozygous mutation, p.Ile462Asn, was identified in KRT6A in the proband and his affected sister. SNaPshot sequencing revealed mosaicism at a level of 2.5% and 4.7% in DNA from blood and hair bulbs from the unaffected mother. HiSeq deep sequencing demonstrated low-grade mosaicism in the patient’s younger sister and parents. Conclusion These findings indicate the ability of WES and SNaPshot sequencing to detect low-frequency mosaic mutations. Although very rare, germinal mosaicism should be considered when genetic counseling is given to families with presumed spontaneous cases of PC.Yue LiYumeng WangYan MingPan ChaolanZhang JiaNi ChengCao QiaoyuMing LiXu TianyiBMCarticlePachyonychia congentia (PC)Keratin 6AMosaicismWhole exome sequencingSNaPshot sequencingHiSeq deep sequencingInternal medicineRC31-1245GeneticsQH426-470ENBMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Pachyonychia congentia (PC) Keratin 6A Mosaicism Whole exome sequencing SNaPshot sequencing HiSeq deep sequencing Internal medicine RC31-1245 Genetics QH426-470
spellingShingle	Pachyonychia congentia (PC) Keratin 6A Mosaicism Whole exome sequencing SNaPshot sequencing HiSeq deep sequencing Internal medicine RC31-1245 Genetics QH426-470 Yue Li Yumeng Wang Yan Ming Pan Chaolan Zhang Jia Ni Cheng Cao Qiaoyu Ming Li Xu Tianyi A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
description	Abstract Background Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most prominent manifestation is plantar pain. This is a further unusual case of parental mosaicism in PC. Although very rare, germ cell mosaicism should be considered when providing genetic counselling for unaffected parents of a child with PC. Case presentation We report the case of a 5-year-old boy with thickening nails and oral leukokeratosis at birth. He began to develop palmoplantar keratoderma at 2 years old and his sister has similar clinical manifestation characterized with nail discoloration and thickening. A previously reported heterozygous mutation, p.Ile462Asn, was identified in KRT6A in the proband and his affected sister. SNaPshot sequencing revealed mosaicism at a level of 2.5% and 4.7% in DNA from blood and hair bulbs from the unaffected mother. HiSeq deep sequencing demonstrated low-grade mosaicism in the patient’s younger sister and parents. Conclusion These findings indicate the ability of WES and SNaPshot sequencing to detect low-frequency mosaic mutations. Although very rare, germinal mosaicism should be considered when genetic counseling is given to families with presumed spontaneous cases of PC.
format	article
author	Yue Li Yumeng Wang Yan Ming Pan Chaolan Zhang Jia Ni Cheng Cao Qiaoyu Ming Li Xu Tianyi
author_facet	Yue Li Yumeng Wang Yan Ming Pan Chaolan Zhang Jia Ni Cheng Cao Qiaoyu Ming Li Xu Tianyi
author_sort	Yue Li
title	A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
title_short	A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
title_full	A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
title_fullStr	A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
title_full_unstemmed	A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
title_sort	krt6a mutation p.ile462asn in a chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
publisher	BMC
publishDate	2021
url	https://doaj.org/article/6128d309cfd3491c90e35bd8d917f942
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A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

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