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Войти в исследования Molecular syndromology · 2024
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.
СтатьяНазвание и аннотация: Перевод в очереди
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Bulut Gülnihal, Turgut Gözde Tutku, Toksoy Güven, Altunoğlu Umut, Aslanger Ayça Dilruba, Uyguner Zehra Oya, Karaman Birsen
Аннотация
INTRODUCTION: Sandestig-Stefanova syndrome (MIM:618804) is characterized by pre- and postnatal microcephaly, trigonocephaly, bilateral congenital cataracts, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, periventricular white matter loss, thin corpus callosum, and delayed myelination. Bi-allelic loss-of-function variants in the Nucleoporin 188 (NUP188) (MIM:615587) gene are implicated in the etiology.
CASE PRESENTATION: Our patient, born to consanguineous parents, presented with tetralogy of Fallot, bilateral congenital cataracts, hydrocephalus, a bifid uvula, a right pelvic kidney, hepatomegaly, facial feature findings, and a history of a similarly affected ex-sibling. Whole exome sequence analysis in the index case revealed a novel homozygous variant NM_015354.2: c.124C>T/p.(Arg42Ter) in the NUP188 gene.
CONCLUSION: This study describes a new patient with Sandestig-Stefanova syndrome harboring a novel pathogenic variant in the NUP188 gene.
CASE PRESENTATION: Our patient, born to consanguineous parents, presented with tetralogy of Fallot, bilateral congenital cataracts, hydrocephalus, a bifid uvula, a right pelvic kidney, hepatomegaly, facial feature findings, and a history of a similarly affected ex-sibling. Whole exome sequence analysis in the index case revealed a novel homozygous variant NM_015354.2: c.124C>T/p.(Arg42Ter) in the NUP188 gene.
CONCLUSION: This study describes a new patient with Sandestig-Stefanova syndrome harboring a novel pathogenic variant in the NUP188 gene.