Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2

Noonan syndrome is characterized by variable phenotypic expressivity with characteristic dysmorphic facial features, varying degrees of intellectual disability, developmental delay, short stature, and congenital heart defects in 50–80%. Other findings include a webbed neck, cryptorchidism, coagulati...

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Bibliographic Details
Published in:European journal of medical genetics 2023-02, Vol.66 (2), p.104695-104695, Article 104695
Main Authors: Markholt, Sara, Andreasen, Lotte, Bjerre, Jesper, Gregersen, Pernille Axél, Andersen, Brian Nauheimer
Format: Article
Language:English
Subjects:
Dysmorphism
Heart Defects, Congenital
Heterozygote
Homozygote
Humans
Intellectual Disability - genetics
Male
Noonan Syndrome - genetics
Noonan Syndrome - pathology
Noonan-like syndrome
Phenotype
Repressor Proteins - genetics
SPRED2
Transcription Factors - genetics
Whole exome sequencing
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Description
Summary:Noonan syndrome is characterized by variable phenotypic expressivity with characteristic dysmorphic facial features, varying degrees of intellectual disability, developmental delay, short stature, and congenital heart defects in 50–80%. Other findings include a webbed neck, cryptorchidism, coagulation defects and eye abnormalities. Thus far, Noonan syndrome has mainly been attributed to heterozygous pathogenic variants in 10+ different genes, with the rare exception of cases due to biallelic pathogenic variants in LZTR1. Recently, homozygous loss-of-function variants in SPRED2 have been identified as a cause of a recessive Noonan syndrome-like phenotype. We present the phenotypes of two additional patients with homozygosity for a previously unreported loss-of-function variant in SPRED2, thereby adding relevant clinical information about the recently described Noonan syndrome-like SPRED2-related phenotype.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2023.104695