Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.

Molecular Biology Reports
Fehmida Farid KhanMuhammad Naeem

Abstract

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of ectopic mineralization and fragmentation of elastic fibers in skin, eyes, cardiovascular and digestive system. PXE is caused by sequence variants in ABCC6, which encodes multidrug resistance-associated protein 6 (MRP6, also known as the ABCC6 protein). MRP6 is an important regulator of inorganic plasma pyrophosphate that acts as an inhibitor of ectopic mineralization observed in PXE patients with low inorganic plasma pyrophosphate levels. The current study was designed to investigate underlying genetic defect in two unrelated Pakistani families affected with PXE. Whole exome sequencing followed by Sanger sequencing was performed to identify causative variants. A novel homozygous frameshift variant (c.1799_1805dupGTCTGGT) was identified in one family and two previously reported missense variants (c.2294G > A and c.2974G > A) in compound heterozygous form in the other family. We identified ABCC6 variants that are likely cause of the PXE disease in the tested families. Genetic analysis of these families could be useful for pre-symptomatic diagnosis and genetic counselling of the affected families.

References

Jan 1, 1988·Clinics in Dermatology·K H Neldner
Jul 29, 1999·British Journal of Cancer·M G Belinsky, G D Kruh
Dec 3, 1999·Biochimica Et Biophysica Acta·P BorstJ Wijnholds
May 17, 2000·Proceedings of the National Academy of Sciences of the United States of America·F RingpfeilJ Uitto
Jun 3, 2000·Nature Genetics·A A BergenP T de Jong
Sep 6, 2001·American Journal of Human Genetics·O Le SauxC D Boyd
Jan 6, 2006·Human Biology·Veronika SchulzKnut Kleesiek
Jun 24, 2006·The British Journal of Dermatology·S Christen-ZächD Hohl
Jul 28, 2007·World Journal of Gastroenterology : WJG·Vedat GoralAsur Uyar
Sep 19, 2008·The Journal of Investigative Dermatology·Qiaoli LiJouni Uitto
Dec 25, 2009·The Journal of Investigative Dermatology·Jouni UittoQiujie Jiang
Apr 2, 2010·American Journal of Medical Genetics. Part a·Astrid S PlompPaulus T V M de Jong
Jan 5, 2011·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Ilias GeorgalasIoannis Ladas
May 16, 2013·The Journal of Investigative Dermatology·Jouni UittoSharon F Terry
Aug 24, 2013·Arteriosclerosis, Thrombosis, and Vascular Biology·Laurence CampensJulie De Backer
Jan 24, 2015·The Journal of Investigative Dermatology·Liang JinGang Wang
Jan 20, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anne LegrandJuliette Albuisson

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Citations

Jan 30, 2021·Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy·Jing-Quan WangZhe-Sheng Chen

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Methods Mentioned

BETA
exome sequencing
PCR
biopsy

Software Mentioned

PROVEAN
Polyphen
MODEL
ClinVar
MutationTaster
Genome Analysis Toolkit ( GATK
SnpEff
PdbViewer
SWISS
SWISSMODEL

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