Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.

IF 0.4 4区医学 Q4 GENETICS & HEREDITY Clinical Dysmorphology Pub Date : 2022-07-01 Epub Date: 2022-03-07 DOI:10.1097/MCD.0000000000000419

Emily Woods, Michael Yates, Farah Kanani, Meena Balasubramanian

引用次数: 0

Abstract

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.

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单亲二体作为x连锁点状软骨发育不良的机制。

我们描述了一例因母体X染色体同源性导致的X连锁点状软骨发育不良（CDPX1）的女婴。ARSL的靶向Sanger测序和靶向下一代测序用于检测家族变异。该患者是ARSL NM_000047.2:c.1227_1228delinsAT p.（Ser410Cys）家族性变体的纯合子，与CDPX1的诊断一致。单亲不育是一种染色体变异。虽然不一定是致病性的，但它可以引起女性的印迹障碍和X连锁隐性疾病，并且当只有父母一方是携带者时，它是常染色体隐性疾病的原因。所描述的患者强调，单亲二育可能是X连锁隐性疾病的罕见原因。这种继承模式以前没有在这种情况下进行过描述。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.