Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility
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DOI: 10.1002/humu.24138
Abstract: Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole‐exome and Sanger sequencing to identify suspected causative variants in 414… read more here.
Keywords: novel homozygous; variants zmynd15; male infertility; infertility ... See more keywords
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8
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DOI: 10.1111/cge.13666
Abstract: Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases… read more here.
Keywords: cerebellar ataxia; variant ca8; truncating variant; ca8 ... See more keywords
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement
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DOI: 10.1136/jmg-2022-108821
Abstract: Background Enzymes of the Golgi implicated in N-glycan processing are critical for brain development, and defects in many are defined as congenital disorders of glycosylation (CDG). Involvement of the Golgi mannosidase, MAN2A2 has not been… read more here.
Keywords: truncating variant; man2a2; neurological involvement; glycosylation ... See more keywords
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pulmonary Medicine"
DOI: 10.1186/s12890-020-1175-1
Abstract: Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this… read more here.
Keywords: primary ciliary; ciliary dyskinesia; truncating nek10; report ... See more keywords