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The case report presents 5 years old male proband with Joubert syndrome (JS) referred to the Institute with the complaint of developmental delay. Mutation analysis in the proband by MLPA showed homozygous duplication in exon 7 of SMN2 gene. Further, next generation sequencing (NGS) based gene panel study showed one copy of c.746G>A (p.R249H) variant of uncertain significance in exon 5 of TRPV4 gene in heterozygous condition. The same variant was identified in the probands father. Prenatal diagnosis in proband’s mother who was pregnant, revealed heterozygous missense variants of uncertain significance at c.578C>G (p. Thr193Arg) in exon 4 of PNPLA8 gene and c.862C>T (p. Arg288Cys) in exon 6 of KCNH1 gene in the developing foetus. Thus, the advanced genetic analysis along with clinical findings and typical imaging will help in appropriate diagnosis and management of the Joubert syndrome.

journal of pediatrics, perinatology and child health

Joubert Syndrome with Homozygous Duplication in Exon 7 of SMN2 Gene and c.746G&gt;A (p.R249H) Variant of Uncertain Significance in TRPV4 Gene: A Case Report