First‐trimester diagnosis of hydrolethalus syndrome in a Chinese family

Chan, Ben; Shek, Tony W. H.; Lee, Chin Peng

doi:10.1002/pd.870

Cited by 10 publications

(2 citation statements)

References 14 publications

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“…The incidence of this syndrome is 1 in 20,000 births in Finland [133][134][135]. Patients with similar or somewhat milder clinical features have also been reported outside Finland [133,[136][137][138]. However, no causative variants have been confirmed in these cases.…”

Section: Hydrolethalus Syndrome 1 (Hls1)mentioning

confidence: 97%

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Zárybnický

Heikkinen

Kangas

et al. 2021

Cells

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The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.

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Section: Hydrolethalus Syndrome 1 (Hls1)mentioning

confidence: 97%

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Zárybnický

Heikkinen

Kangas

et al. 2021

Cells

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“…HLS is always lethal and leads to stillbirth or death shortly after birth 2,3 . Nowadays, HLS fetuses are efficiently detected at the first trimester ultrasound (US) scan allowing an early prenatal diagnosis 4 . HLS is inherited in an autosomal recessive manner and has a 25% recurrence risk after an affected pregnancy.…”

Section: Introductionmentioning

confidence: 99%

The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome

et al. 2021

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Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the HYLS1 gene was identified. No other HYLS1 variant has hitherto been implicated in HLS. We report two unrelated French fetuses presenting with a phenotype of HLS with brain abnormalities, limbs malformations with pre and postaxial hexadactyly and abnormal genitalia. These two fetuses have compound heterozygous variants in HYLS1. The first allele carries the same Finnish missense variant (NM_145014.2: c.632A > G, p.[Asp211Gly]) in both fetuses and the second allele carries a new missense variant (c.662G > C, p.[Arg221Pro]) in the first fetus, and a new nonsense variant (c.613C > T, p.[Arg205*]) in the second fetus. This is the first report of HYLS1 mutated cases outside Finland. Both cases presented here are consistent with HLS with additional malformations, allowing expansion of the phenotypic presentation previously described.

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Current awareness in prenatal diagnosis

2004

Prenatal Diagnosis

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In order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre‐implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted

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First‐trimester diagnosis of hydrolethalus syndrome in a Chinese family

Cited by 10 publications

References 14 publications

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome

Current awareness in prenatal diagnosis

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