A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.

Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. Muenke syndrome is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, hearing impairment and intellectual disability. The syndrome is defined molecularly by a unique point mutation c.

Successful hematopoietic stem cell transplantation in 2 children with X-linked chronic granulomatous disease from their unaffected HLA-identical siblings selected using preimplantation genetic diagnosis combined with HLA typing.

We report 2 children with X-linked chronic granulomatous disease (X-CGD) who underwent hematopoietic stem cell transplantation (HSCT) using grafts from their siblings selected before implantation to be both unaffected and HLA-matched donors. Preimplantation genetic diagnosis (PGD) along with HLA-typing were performed on preimplantation embryos by single-cell multiplex polymerase chain reaction using informative short tandem repeat markers in the HLA locus together with the gene region containing the mutations. Two singleton pregnancies resulted from the intrauterine transfer of selected embryos; these developed to term, producing 1 healthy female and 1 X-CGD carrier female, which are HLA-identical siblings to the 2 affected children.

Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing.

Objective: To perform preimplantation genetic diagnosis (PGD) for chronic granulomatous disease with simultaneous HLA typing in a family case with an affected male child, with the aim of selecting unaffected and HLA-matched embryos to act as donors for hematopoietic stem cell transplantation from umbilical cord blood.

Methods: A flexible, indirect HLA haplotyping protocol, based on single-cell multiplex PCR analysis of multiple polymorphic short tandem repeat (STR) markers within the human HLA complex, was optimized for the simultaneous amplification of the informative STR markers together with the gp91-phox gene region containing the mutation and the sexing marker amelogenin. Detection of the c.