Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients

被引：16

作者：

Al-Nafie, Awatif N. ^{[1
]}

Borgio, J. Francis ^{[2
]}

AbdulAzeez, Sayed ^{[2
]}

Al-Suliman, Ahmed M. ^{[3
,4
]}

Qaw, Fuad S. ^{[5
]}

Naserullah, Zaki A. ^{[6
]}

Al-Jarrash, Sana ^{[6
]}

Al-Madan, Mohammed S. ^{[7
]}

Al-Ali, Rudaynah A. ^{[8
]}

AlKhalifah, Mohammed A. ^{[9
]}

Al-Muhanna, Fahad ^{[8
]}

Steinberg, Martin H. ^{[10
]}

Al-Ali, Amein K. ^{[2
]}

机构：

[1] Univ Dammam, Dept Pathol, Dammam, Saudi Arabia

[2] Univ Dammam, Ctr Med Res & Consultat, Dammam 31441, Saudi Arabia

[3] King Faisal Univ, Al Omran Sci Chair Hematol Dis Al Ahsa, Al Hasa, Saudi Arabia

[4] King Fand Hosp, Dept Hematol, Al Hasa, Saudi Arabia

[5] Univ Dammam, Dept Biochem, Dammam, Saudi Arabia

[6] Dammam Matern & Child Hosp, Dammam, Saudi Arabia

[7] King Fand Hosp Univ, Dept Pediat, Al Khobar, Saudi Arabia

[8] King Fand Hosp Univ, Dept Internal Med, Al Khobar, Saudi Arabia

[9] Qatif Cent Hosp, Qatif, Saudi Arabia

[10] Boston Univ, Ctr Excellence Sickle Cell Dis, Dept Med, Sch Med, Boston, MA 02215 USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2015年 / 55卷 / 01期

关键词：

ATRX gene; alpha-thalassemia; beta-thalassemia; Mental retardation; EASTERN PROVINCE; SAUDI-ARABIA; HISTONE CHAPERONE; SPECTRUM; PROTEIN; H3.3; DAXX; ASSOCIATION; TELOMERES;

D O I：

10.1016/j.bcmd.2015.03.008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

alpha-thalassemia x-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the ATRX gene. In our previous study of the prevalence of beta-thalassemia mutations in the Eastern Province of Saudi Arabia, we confirmed the widespread coinheritance of alpha-thalassemia mutation. Some of these subjects have a family history of mental retardation, the cause of which is unknown. Therefore, we investigated the presence or absence of mutations in the ATRX gene in these patients. Three exons of the ATRX gene and their flanking regions were directly sequenced. Only four female transfusion dependent beta-thalassemia patients were found to be carriers of a novel mutation in the ATRX gene. Two of the ATRX gene mutations, c.623delA and c.848T>C were present in patients homozygous for IVS I-5(G -> C) and homozygous for Cd39(C -> T) beta-thalassemia mutation, respectively. While the other two that were located in the intronic region (flanking regions), were present in patients homozygous for Cd39(C -> T) beta-thalassemia mutation. The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：27 / 29

页数：3

共 19 条

[1] SPECTRUM OF α-THALASSEMIA MUTATIONS IN TRANSFUSION-DEPENDENT β-THALASSEMIA PATIENTS FROM THE EASTERN PROVINCE OF SAUDI ARABIA [J].