| Title |
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss
|
|---|---|
| Published in |
Journal of Human Genetics, June 2014
|
| DOI | 10.1038/jhg.2014.51 |
| Pubmed ID | |
| Authors |
Mitsuko Nakashima, Kyoko Takano, Hitoshi Osaka, Noriko Aida, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto |
| Abstract |
We report on a 1-year-old boy with microcephaly with a simplified gyral pattern, early-onset seizures, congenital hearing loss and a severe developmental delay. Trio-based whole-exome sequencing identified candidate compound heterozygous mutations in two genes: c.163G>T (p.Ala55Ser) and c.874G>A (p.Gly292Arg) in polynucleotide kinase 3'-phosphatase gene (PNKP), and c.195G>A (p.Met65Ile) and c.1210A>C (p.Ser404Arg) in PCDH15. PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and developmental delay syndrome, and Usher syndrome type 1F, respectively. Our patient showed neurological features similar to reported cases of both syndromes that could be explained by the observed mutations in both PNKP and PCDH15, which therefore appear to be pathogenic in this case.Journal of Human Genetics advance online publication, 26 June 2014; doi:10.1038/jhg.2014.51. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 45 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| France | 1 | 2% |
| Unknown | 44 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 16% |
| Other | 5 | 11% |
| Researcher | 5 | 11% |
| Student > Postgraduate | 4 | 9% |
| Student > Master | 3 | 7% |
| Other | 8 | 18% |
| Unknown | 13 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 33% |
| Agricultural and Biological Sciences | 9 | 20% |
| Biochemistry, Genetics and Molecular Biology | 6 | 13% |
| Psychology | 1 | 2% |
| Computer Science | 1 | 2% |
| Other | 0 | 0% |
| Unknown | 13 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 June 2014.
All research outputs
#18,373,874
of 22,757,541 outputs
Outputs from Journal of Human Genetics
#1,364
of 1,652 outputs
Outputs of similar age
#163,759
of 227,902 outputs
Outputs of similar age from Journal of Human Genetics
#11
of 14 outputs
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