Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families
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Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families. / Nawal, Warda; Ullah, Asmat; Ullah, Ubaid; Farrakh, Kanza; Ahmad, Farooq; Khan, Hammal; Ahmad, Gul Saeed; Khan, Bushra; Ansar, Muhammad; Umm-e-Kalsoom; Ahmad, Wasim.
In: Klinische Padiatrie, Vol. 234, No. 3, 2022, p. 123-129.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families
AU - Nawal, Warda
AU - Ullah, Asmat
AU - Ullah, Ubaid
AU - Farrakh, Kanza
AU - Ahmad, Farooq
AU - Khan, Hammal
AU - Ahmad, Gul Saeed
AU - Khan, Bushra
AU - Ansar, Muhammad
AU - Umm-e-Kalsoom, null
AU - Ahmad, Wasim
PY - 2022
Y1 - 2022
N2 - Background Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to cause the XP.Methods and Results Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and molecular level. Homozygosity mapping using microsatellite markers established linkage of the families to XPC gene on chromosome 3p25.1. Sanger sequencing of the XPC gene identified a novel homozygous single bp deletion [NM_004628.5; c.1934del; p.(Pro645Leufs*5)] and two previously reported mutations that included a nonsense [c.1243 C>T; p.(Arg415*)] and a splice acceptor site (c.2251–1 G>C), all segregating with the disease phenotypes in the families.Conclusion This report has extended the spectrum of mutations in the XPC gene and will also facilitate in diagnosis of XP and counselling of families inheriting it, which is the only inevitable tool for preventing the disease occurrence in future generations.
AB - Background Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to cause the XP.Methods and Results Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and molecular level. Homozygosity mapping using microsatellite markers established linkage of the families to XPC gene on chromosome 3p25.1. Sanger sequencing of the XPC gene identified a novel homozygous single bp deletion [NM_004628.5; c.1934del; p.(Pro645Leufs*5)] and two previously reported mutations that included a nonsense [c.1243 C>T; p.(Arg415*)] and a splice acceptor site (c.2251–1 G>C), all segregating with the disease phenotypes in the families.Conclusion This report has extended the spectrum of mutations in the XPC gene and will also facilitate in diagnosis of XP and counselling of families inheriting it, which is the only inevitable tool for preventing the disease occurrence in future generations.
KW - Xeroderma pigmentosum
KW - Pakistani families
KW - Homozygosity mapping
KW - XPC gene
KW - Novel frameshift mutation
KW - RECOGNITION
KW - MUTATION
KW - SENSOR
KW - STRAND
U2 - 10.1055/a-1552-3788
DO - 10.1055/a-1552-3788
M3 - Journal article
C2 - 34544175
VL - 234
SP - 123
EP - 129
JO - Klinische Padiatrie
JF - Klinische Padiatrie
SN - 0300-8630
IS - 3
ER -
ID: 281162565