Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene

Mhatre, Shweta; Muranjan, Mamta; Karande, Sunil

doi:10.4103/jpgm.jpgm_4_20

Journal of Postgraduate Medicine

2020

DOI: 10.4103/jpgm.jpgm_4_20

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Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene

Shweta Mhatre

Mamta Muranjan

Sunil Karande

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2023

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Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

Peng,

Zhou,

Chen

et al. 2023

BMC Med Genomics

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Background Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in a prenatal setting. We report the ultrasound and genetic findings of four unrelated fetuses with skeletal dysplasias. Methods Systemic prenatal ultrasound examination was performed in the second or third trimester. Genetic tests including GTG-banding, single nucleotide polymorphism (SNP) array and exome sequencing were performed with amniocytes or aborted fetal tissues. Results The major and common ultrasound anomalies for the four unrelated fetuses included short long bones of the limbs and narrow thorax. No chromosomal abnormalities and pathogenic copy number variations were detected. Exome sequencing revealed three novel variants in the DYNC2H1 gene, namely NM_001080463.2:c.6809G > A p.(Arg2270Gln), NM_001080463.2:3133C > T p.(Gln1045Ter), and NM_001080463.2:c.337C > T p.(Arg113Trp); one novel variant in the IFT172 gene, NM_015662.3:4540-5 T > A; and one novel variant in the WDR19 gene, NM_025132.4:c.2596G > C p.(Gly866Arg). The genotypes of DYNC2H1, IFT172 and WDR19 and the phenotypes of the fetuses give hints for the diagnosis of short-rib thoracic dysplasia (SRTD) with or without polydactyly 3, 10, and 5, respectively. Conclusion Our findings expand the mutation spectrum of DYNC2H1, IFT172 and WDR19 associated with skeletal ciliopathies, and provide useful information for prenatal diagnosis and genetic counseling on rare skeletal disorders.

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Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

Peng,

Zhou,

Chen

et al. 2023

BMC Med Genomics

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show abstract

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Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene

Cited by 1 publication

References 2 publications

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

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