Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

Aims A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna magna and a small area of c...

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Bibliographic Details
Published in:Prenatal diagnosis 2022-11, Vol.42 (12), p.1481-1483
Main Authors: Horton‐Bell, Megan, Hamilton, Sue, Keelagher, Rebecca, Allen, Stephanie, Burca, Anna, Ioannou, Christos, Impey, Lawrence, Cilliers, Deirdre
Format: Article
Language:English
Subjects:
Abnormalities
Amniotic fluid
Calcification
Central nervous system
Deoxyribonucleic acid
Diagnosis
DNA
Fetuses
Gene sequencing
Genetic screening
Medical diagnosis
Phenotypes
Prenatal diagnosis
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Summary:Aims A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna magna and a small area of calcification around the posterior horns. Testing was initiated to identify any underlying genetic cause. Materials and Methods Rapid trio exome sequencing (ES) was performed on DNA extracted from parental blood samples and amniotic fluid. Results A pathogenic homozygous nonsense variant in KLHL7 (NM_001031710.2) associated with PERCHING syndrome (#617055) was identified. Conclusion Whilst there are detailed descriptions of the many postnatal phenotypes seen in these patients, there are few reports of features identified during pregnancy. This report is the first published prenatal diagnosis of PERCHING syndrome and provides further information on the associated fetal phenotypes. Key points What is already known about this topic? PERCHING syndrome is a rare multisystem disorder caused by biallelic pathogenic variants in KLHL7. Postnatal phenotypes are well characterised and include retinitis pigmentosa, respiratory distress and neurologic abnormalities. Intrauterine growth retardation and polyhydramnios have been reported, however information regarding prenatal manifestations is limited. What does this study add? This report extends the prenatal phenotype to include neurological abnormalities. To our knowledge, it is the first prenatally diagnosed case of PERCHING syndrome published in the literature.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.6249