A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/s41439-018-0015-9
Abstract: We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified… read more here.
Keywords: lafora disease; homozygous nhlrc1; variant siblings; nhlrc1 variant ... See more keywords
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-05029-3
Abstract: Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk… read more here.
Keywords: recurrent homozygous; microduplication; pineoblastoma; pediatric adult ... See more keywords
A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms
Sign Up to like & getrecommendations! Published in 2022 at "Asian Journal of Andrology"
DOI: 10.4103/aja2021122
Abstract: Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile… read more here.
Keywords: recurrent homozygous; dynein arms; dynein; ccdc103 ... See more keywords