Sheffield Children's Hospital NHS Foundation Trust.
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust.
Clin Dysmorphol. 2022 Jul 1;31(3):132-135. doi: 10.1097/MCD.0000000000000419. Epub 2022 Mar 7.
We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the familial variant. This patient was homozygous for ARSL NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) familial variant, consistent with a diagnosis of CDPX1. Uniparental disomy is a type of chromosomal variation. Although not necessarily pathogenic, it can cause imprinting disorders and X-linked recessive disorders in females, and be a cause of autosomal recessive conditions when only one parent is a carrier. The patient described highlights that uniparental disomy can be a rare cause of X-linked recessive conditions. This mode of inheritance has not been previously described in this condition.
我们描述了一名女性婴儿患有 X 连锁点状软骨发育不良（CDPX1），这是由于其母亲 X 染色体的单亲二体性所致。使用靶向 Sanger 测序和 ARSL 的靶向下一代测序来检测家族变体。该患者 ARSL NM_000047.2 纯合：c.1227_1228delinsAT p.（Ser410Cys）家族变体，符合 CDPX1 的诊断。单亲二体性是一种染色体变异。虽然不一定是致病的，但它可以导致女性的印迹障碍和 X 连锁隐性疾病，并且当只有一个父母是携带者时，也可以成为常染色体隐性疾病的原因。所描述的患者强调了单亲二体性可能是 X 连锁隐性疾病的罕见原因。这种遗传方式在该病症中以前没有被描述过。
