Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.
نویسندگان
چکیده
F1P1 V F 8 6.2 8.8 390 2 LM 1:1 ND CDA II band 3 Y462C/Y462C F2P1 V M 9 5.5 12.5 384 <0.2 LM 1:4 ND CDA II band 3 Y462C/Y462C F3P1 V M 6 10.8 6.4 368 0.4 LM 1:2 POS CDA II band 3 Y462C/Y462C F4P1 V M < 1 7.5 4.1 311 2.5 LM, EM 1:5 ND CDA II band 3 Y462C/Y462C F4P2 V M < 1 7.1 4.1 282 3.3 LM, EM 1:3 ND ND Y462C/Y462C F5P1a V M 21 8.4 3.2 301 2.6 LM, EM 1:3 ND CDA II band 3 Y462C/Y462C F6P1a V F 16 9.1 4.1 288 2.9 LM, EM 1:3 ND CDA II band 3 Y462C/Y462C F7P1a V F 17 7.6 5.4 221 4.2 LM, EM 1:2 ND CDA II band 3 Y462C/Y462C F8P1 V M 7 7 5.9 243 2 LM, EM 1:3 ND ND Y462C/Y462C F9P1 V M 6 5.3 6.1 210 1.6 LM, EM 1:3 ND ND Y462C/Y462C F10P1 V F 2 10.7 11 279 1 LM, EM 1:2.5 POS ND Y462C/Y462C F11P1 V M 7 6.2 7.1 289 1.2 LM, EM 1:4 ND ND Y462C/Y462C F12P1 V M 5 3.7 12.1 276 2 LM 1:1 POS ND Y462C/Y462C F13P1 V F 10 8.2 10.2 588 2.8 LM 1:3 ND ND Y462C/Y462C F13P2 V M 26 9.8 8.3 243 3.4 LM 1:4 ND ND Y462C/Y462C F14P1 V F 14 6.8 2.4 157 1.8 LM 1:4 ND ND Y462C/Y462C F15P1 V F 9 7 13.5 200 0.5 LM 1:1.2 POS ND Y462C/Y462C F16P1 V/O M 1 6.5 5.7 271 ND LM ND ND ND Y462C/WT F17P1 V/O M 1 7 7.8 431 ND LM, EM 1:4.5 ND ND Y462C/WT F18P1 V M 2 7.6 18.8 290 6.5 LM, EM 1:1 ND ND ND F19P1 V M 13 10.9 8.1 256 0.4 LM, EM 1:2 POS ND ND F20P1 V F 1 6.5 11.3 285 4.5 LM, EM 1:1 POS ND ND F21P1 V M 5 7.8 10.8 559 2.8 LM 1:3.5 POS ND ND F22P1 V F 6 9.1 15.9 340 3.5 LM NA POS ND ND F23P1 O F 10 6.4 4.9 459 3 LM 1:2 POS CDA II band 3 WT/WT F24P1 O M 4 7.5 7.6 335 NA LM 1:2.5 ND CDA II band 3 WT/WT F24P2 O M 4 6.3 11.7 439 1.5 LM, EM 1:3.5 POS CDA II band 3 WT/WT F25P1 O F 4 6 4.4 330 NA LM, EM 1:4 POS CDA II band 3 WT/WT
منابع مشابه
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene
SEC23B gene encodes an essential component of the coat protein complex II (COPII)-coated vesicles. Mutations in this gene cause the vast majority the congenital dyserythropoietic anemia Type II (CDA II), a rare disorder resulting from impaired erythropoiesis. Here, we investigated 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry. Overall, we found 19 n...
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OBJECTIVE Congenital dyserythropoietic anemia (CDA) is characterized by ineffective erythropoiesis, binuclearity of erythroid precursors and secondary hemochromatosis. Recently, the gene mutated in CDA type II (CDA II), SEC23B, was identified. All Israeli patients with CDA II are of North African (mainly Moroccan) Jewish descent. We investigated the molecular basis of CDA II in those patients. ...
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BACKGROUND Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are available only in specialized laboratories. The recent identification of SEC23B mutations as the cause of CDAII opens new possibilities for the molecular diagnosis of the disease. The ...
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ورودعنوان ژورنال:
- Clinical genetics
دوره 88 2 شماره
صفحات -
تاریخ انتشار 2015