Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Fevre, Anna Le; Baptista, Júlia; Ellard, Sian; Overton, Timothy G.; Oliver, Ann; Gradhand, Elise; Scurr, Ingrid

doi:10.1016/j.ejmg.2019.04.014

Cited by 14 publications

(8 citation statements)

References 18 publications

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“…Libraries were prepared using the Twist Core Human Exome Kit (Twist Bioscience) and sequenced on the NextSeq 500 or NovaSeq seq platform (Illumina). Reads were aligned to human genome build hg19, and analyzed for sequence variants using a custom-developed analysis tool as previously described 20 . Family 4-3 proband was explored with clinical Exome at BGI Europe (Copenhagen, Denmark).…”

Section: Patients' Recruitment and Investigationmentioning

confidence: 99%

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Coolen¹,

Altin²,

Rajamani³

et al. 2022

The American Journal of Human Genetics

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Section: Patients' Recruitment and Investigationmentioning

confidence: 99%

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Coolen¹,

Altin²,

Rajamani³

et al. 2022

The American Journal of Human Genetics

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“…Hydrops could be a possible secondary manifestation as a functional outcome of congenital heart block. Presentation with hydrops in congenital heart block has not been described in previous reports of PKD1L1-related heterotaxy (Le Fevre et al, 2019). It could also result from an underlying concurrent congenital sideroblastic anaemia (Rodriguez et al, 2019).…”

Section: Discussionmentioning

confidence: 79%

Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum

Correa

Endrakanti

Naini

et al. 2021

Annals of Human Genetics

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Abnormalities in the normal left-right axis asymmetry range from situs inversus totalis to situs ambiguous or heterotaxy. More than 80 genes have been describedto have a role in the establishment of the normal situs of the internal organs. Pathogenic variants in the PKD1L1 gene have recently been described in heterotaxy and congenital heart disease. Till date, 11 families have been described with PKD1L1-related heterotaxy. We describe the first Indian family with two affected foetuses with PKD1L1-related nonimmune hydrops, congenital heart disease, situs inversus, and heterotaxy, with biallelic variants in the compound heterozygous state.

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“…Trio whole exome sequencing was undertaken on DNA extracted from peripheral blood samples from the affected child and both parents, as previously described in Le Fevre et al, 2019.…”

Section: Resultsmentioning

confidence: 99%

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome

Ashraf

Vaina

Giri

et al. 2020

American J of Med Genetics Pt A

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Short‐rib polydactyly syndromes are a heterogeneous group of disorders characterized by narrow thorax with short ribs, polydactyly and often other visceral and skeletal malformations. To date there have only been six reported patients with homozygous and compound heterozygous variants in IFT81, causing a short‐rib thoracic dysplasia, with, or without, polydactyly (SRTD19: OMIM 617895). IFT81 is a protein integral to the core of the intraflagellar transport complex B (IFT‐B), which is involved in anterograde transport in the cilium. We describe the case of a male infant with compound heterozygous variants in IFT81, who presented with short long bones, a narrow thorax, polydactyly, and multiple malformations. Three novel clinical features are reported including complete situs inversus, micropenis, and rectal atresia, which have not previously been associated with variants in IFT81. We reviewed the literature and identified the most consistent clinical features associated with this rare ciliopathy syndrome. We postulate that dolichocephaly and sagittal craniosynostosis may be associated with this condition, and provide a clue to considering IFT81 as the causative gene when deciphering complex ciliopathies.

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Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Cited by 14 publications

References 18 publications

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome

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