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Background <p>Kaufman oculocerebrofacial syndrome (KOS; OMIM #244450)is a rare autosomal recessive disorder caused by pathogenic biallelic variants in <i>UBE3B</i>, characterized by craniofacial dysmorphism, global developmental delay, hypotonia, and multisystem anomalies.</p> Case presentation <p>We describe a 12-month-old Jordanian girl born to consanguineous parents, who exhibited microcephaly, hypotonia, feeding difficulties, and failure to thrive. Echocardiography revealed a mild basal septal hypertrophy. Developmental evaluation confirmed moderate global delay. Whole-exome sequencing revealed a homozygous <i>UBE3B</i> splice site variant (c.1741 + 2T &gt; C), previously reported as pathogenic in ClinVar and classified as pathogenic according to ACMG/AMP criteria but without a detailed phenotypic description. Family history revealed additional neonatal deaths in a consanguineous context, raising the possibility of an underlying autosomal recessive condition.</p> Conclusion <p>This case adds to the limited body of literature on KOS and provides further evidence for the pathogenicity of the c.1741 + 2T &gt; C variant. This case highlights the importance of considering KOS in infants presenting with characteristic craniofacial features such as blepharophimosis, ptosis, preauricular tags, and developmental delay, particularly in consanguineous families.</p>

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Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月30日

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  • Abedulrhman S. Abdelfattah,
  • Mohammad Abu Saleh

摘要

Background

Kaufman oculocerebrofacial syndrome (KOS; OMIM #244450)is a rare autosomal recessive disorder caused by pathogenic biallelic variants in UBE3B, characterized by craniofacial dysmorphism, global developmental delay, hypotonia, and multisystem anomalies.

Case presentation

We describe a 12-month-old Jordanian girl born to consanguineous parents, who exhibited microcephaly, hypotonia, feeding difficulties, and failure to thrive. Echocardiography revealed a mild basal septal hypertrophy. Developmental evaluation confirmed moderate global delay. Whole-exome sequencing revealed a homozygous UBE3B splice site variant (c.1741 + 2T > C), previously reported as pathogenic in ClinVar and classified as pathogenic according to ACMG/AMP criteria but without a detailed phenotypic description. Family history revealed additional neonatal deaths in a consanguineous context, raising the possibility of an underlying autosomal recessive condition.

Conclusion

This case adds to the limited body of literature on KOS and provides further evidence for the pathogenicity of the c.1741 + 2T > C variant. This case highlights the importance of considering KOS in infants presenting with characteristic craniofacial features such as blepharophimosis, ptosis, preauricular tags, and developmental delay, particularly in consanguineous families.