Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.967
Abstract: X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset. Herein, we describe a male neonate from an ethnic Han Chinese family who presented with… read more here.
Keywords: congenital deafness; identifies donor; exome sequencing; donor splice ... See more keywords
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-022-01043-8
Abstract: Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report identified variants in leiomodin-2 (LMOD2) as a cause of neonatally-lethal DCM. Here, we describe two siblings… read more here.
Keywords: donor splice; lmod2; splice site; dilated cardiomyopathy ... See more keywords
In silico prioritization and further functional characterization of SPINK1 intronic variants
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DOI: 10.1186/s40246-017-0103-9
Abstract: BackgroundSPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis. Recently, based upon data from qualitative reverse transcription-PCR (RT-PCR) analyses of… read more here.
Keywords: spink1 intronic; donor splice; splice site; site ... See more keywords