Preimplantation genetic diagnosis for X-linked agammaglobulinemia: a case report.
OBJECTIVE
To report the first clinical experience of preimplantation genetic diagnosis (PGD) for X-linked agammaglobulinemia (XLA), which resulted from a point mutation in Bruton's tyrosine kinase (BTK) gene.


METHODS
Case report.


METHODS
Clinical IVF laboratory.


METHODS
A couple carrying BTK gene mutation (c.832C>T) that is associated with XLA.


METHODS
Day 3 embryos, obtained by IVF with intracytoplasmic sperm injection, underwent blastomere biopsy and DNA testing via nest polymerase chain reaction and restriction enzyme analysis to detect the presence of a maternal BTK mutation.


METHODS
Successful PGD for a BTK gene mutation and transfer of healthy embryos.


RESULTS
The patient received two PGD cycles. In total, 19 oocytes were fertilized, 15 embryos were suitable for embryo biopsy, 6 were diagnosed as unaffected, 6 were carriers, 2 were mutant, and the remaining 1 did not provide any diagnosis. In two treatment cycles, two ETs of three embryos each were performed. Unfortunately no pregnancy was achieved.


CONCLUSIONS
We are the first to report a case of PGD for XLA. The result indicates that PGD is feasible for this genetic disease and may represent a viable alternative to prenatal diagnosis with the subsequent option of terminating an affected pregnancy.
Xu
Chenming
C
Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.
Xu
Bingsen
B
Huang
Hefeng
H
Huang
Xuefeng
X
Jin
Fan
F
D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D019836:Preimplantation Diagnosis; D011505:Protein-Tyrosine Kinases / Q000235:genetics
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human