Abnormalities in the normal left–right axis asymmetry range from situs inversus totalis to situs ambiguous or heterotaxy. More than 80 genes have been described to have a role in the establishment of the normal situs of the internal organs. Pathogenic variants in the PKD1L1 gene have recently been described in heterotaxy and congenital heart disease. Till date, 11 families have been described with PKD1L1‐related heterotaxy. We describe the first Indian family with two affected foetuses with PKD1L1‐related nonimmune hydrops, congenital heart disease, situs inversus, and heterotaxy, with biallelic variants in the compound heterozygous state.

中文翻译：

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PKD1L1 相关异性中的胎儿水肿：两个胎儿的报告和扩展表型和分子谱

正常左右轴不对称的异常范围从整体位点反转到位点不明确或异位。已有超过 80 种基因被描述在建立内脏正常位置方面发挥作用。最近在异位性和先天性心脏病中描述了PKD1L1基因中的致病变异。迄今为止，已有 11 个家族被描述为具有PKD1L1相关的异位性。我们描述了第一个印度家庭，其中两个受影响的胎儿患有PKD1L1相关的非免疫性水肿、先天性心脏病、内翻位和异位性，双等位基因变异处于复合杂合状态。