Scholarlink

Background <p><i>USP9X</i> gene variations have been associated with the rare syndrome female-restricted X-linked syndromic intellectual disability (MRXS99F). Loss-of-function mutations in <i>USP9X</i> gene is primarily characterized by development delay, speech and motor disorders, special facial features and multiple congenital malformations.</p> Methods and results <p>We reported a newborn who presented with special facial features and developmental delay. We performed whole-genome sequencing and identified a rare novel heterozygous <i>USP9X</i> variant, c.4071-4077delCTTTACT (p.Thr1359Trpfs*19). To date, only seven <i>USP9X</i> variants in infants have been reported. Affected individuals typically exhibit a spectrum of congenital anomalies, including craniofacial dysmorphisms (such as hypertelorism, flat nasal bridge, and cleft palate), skeletal abnormalities (such as limb shortening, scoliosis, and rib anomalies), and neurological deficits (including severe intellectual disability, epilepsy, and motor delay). The radio logical tests revealed structural anomalies, such as corpus callosum agenesis and congenital hip dysplasia.</p> Conclusions <p>This study expands the genotypic and clinical phenotypic spectrum of <i>USP9X</i>-related MRXS99F and reinforces the utility of whole-genome sequencing in early diagnosis and genetic counseling.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability

  • 期刊论文

  • 发表日期：

    2025年11月15日

查看全文
  • Shanshan Xue,
  • Wujuan Shi,
  • Lihong Hao

摘要

Background

USP9X gene variations have been associated with the rare syndrome female-restricted X-linked syndromic intellectual disability (MRXS99F). Loss-of-function mutations in USP9X gene is primarily characterized by development delay, speech and motor disorders, special facial features and multiple congenital malformations.

Methods and results

We reported a newborn who presented with special facial features and developmental delay. We performed whole-genome sequencing and identified a rare novel heterozygous USP9X variant, c.4071-4077delCTTTACT (p.Thr1359Trpfs*19). To date, only seven USP9X variants in infants have been reported. Affected individuals typically exhibit a spectrum of congenital anomalies, including craniofacial dysmorphisms (such as hypertelorism, flat nasal bridge, and cleft palate), skeletal abnormalities (such as limb shortening, scoliosis, and rib anomalies), and neurological deficits (including severe intellectual disability, epilepsy, and motor delay). The radio logical tests revealed structural anomalies, such as corpus callosum agenesis and congenital hip dysplasia.

Conclusions

This study expands the genotypic and clinical phenotypic spectrum of USP9X-related MRXS99F and reinforces the utility of whole-genome sequencing in early diagnosis and genetic counseling.