The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome
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DOI: 10.1097/md.0000000000019169
Abstract: Abstract Introduction: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities. Patient concerns: Patients 1 and 2 were two… read more here.
Keywords: rib; short rib; oral facial; rib polydactyly ... See more keywords
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006254
Abstract: Biallelic pathogenic variants in DYNC2H1 are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we… read more here.
Keywords: intronic variant; variant; dync2h1; patient ... See more keywords
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type
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DOI: 10.1111/cge.12947
Abstract: The short‐rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I–IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among… read more here.
Keywords: rib polydactyly; short rib; type; saldino noonan ... See more keywords
Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-251118
Abstract: Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic disorders characterised by abnormal growth and development of bone and cartilage. The phenotypic variation of SD highlights the complex aetiology for this… read more here.
Keywords: whole exome; dysplasia; short rib; lethal skeletal ... See more keywords
Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1125473
Abstract: Background and aims: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) represents a type of severe fetal skeletal dysplasia (SD) characterized by shortened limbs, narrow thorax with or without polydactyly, which is caused by… read more here.
Keywords: dysplasia; short rib; rib thoracic; gene ... See more keywords