Identification of a novel 145 kb deletion (Guigang deletion, - Guigang ) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing.

Autor:	Guo J; Department of Clinical Genetic Laboratory, Maternal and Child Health Care Hospital of Guigang, Guigang, Guangxi, People's Republic of China., Li T; Department of Clinical Genetic Laboratory, Maternal and Child Health Care Hospital of Guigang, Guigang, Guangxi, People's Republic of China., Liang L; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China., Wei W; Department of Clinical Genetic Laboratory, Maternal and Child Health Care Hospital of Guigang, Guigang, Guangxi, People's Republic of China., Li Y; Department of Clinical Genetic Laboratory, Maternal and Child Health Care Hospital of Guigang, Guigang, Guangxi, People's Republic of China., Guo W; Research and Development Department, Yaneng Biotechnology Corporation, Shenzhen, People's Republic of China., Li Y; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
Jazyk:	angličtina
Zdroj:	Hematology (Amsterdam, Netherlands) [Hematology] 2024 Dec; Vol. 29 (1), pp. 2412949. Date of Electronic Publication: 2024 Oct 09.
DOI:	10.1080/16078454.2024.2412949
Abstrakt:	Objective: To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS). Case Report: The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α 0 -thalassemia carrier status (Hb Bart's 3.0%). Notably, both parents had negative results on thalassemia screening during pregnancy. Multiplex ligation-dependent probe amplification (MLPA) presented a deletion between probes 364nt and 472 nt that extended from the HBZ gene to the downstream region of the RGS11 gene. Subsequently, TGS determined the approximated break position of this deletion, indicating a length exceeding 145 kb (chr16:127,815-273,190 del 145376 bp). Sanger sequencing validated the upstream and downstream breakpoints of this deletion. Only maternal data were available for pedigree analysis, with the father's sample lacking. MLPA showed no deletion in the mother, suggesting possible paternal inheritance. The deletion was named Guigang deletion (-- Guigang ) after the proband's city of origin, Guigang. Conclusions: We reported a novel α-thalassemiadeletion and provided insights into the hematological phenotype and molecular analysis. These findings have implications for genetic counseling and prenatal diagnosis.
Databáze:	MEDLINE
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