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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss.

Haemi Choi1, Jeong-A Kim1, Kyung-Ok Cho2,3,4,5

  • 1Department of Psychiatry, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Frontiers in Genetics
|April 17, 2024
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Summary

Genetic analysis revealed a 12p11.22 deletion in siblings with mild intellectual disability (ID) and borderline intellectual functioning (BIF). This finding may explain their cognitive impairments and expands knowledge on genetic causes of mild ID.

Keywords:
12p deletionCNVchromosomal microarray analysiscognitive impairmentneurodevelopmental disorder

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders

Background:

  • Genetic abnormalities are established causes of severe intellectual disability (ID).
  • Genetic diagnosis for mild ID and borderline intellectual functioning (BIF) remains challenging due to unidentified causative variants.
  • Genetic testing is crucial for prognosis and recurrence risk assessment in mild ID/BIF cases.

Observation:

  • Two sisters presented with developmental delay and were diagnosed with mild ID and BIF.
  • Chromosomal microarray analysis identified a shared 12p11.22 deletion in both sisters and their father with probable BIF.
  • No brain structural abnormalities, dysmorphism, or external factors were noted in the patients.

Findings:

  • The 12p11.22 deletion encompasses the OVCH1-AS1, OVCH1, and TMTC1 genes.
  • This specific genetic variant is strongly associated with the cognitive impairments observed in the siblings.
  • The identified variants in OVCH1, OVCH1-AS1, and TMTC1 are considered the most likely disease-causing genes.

Implications:

  • This study expands the understanding of genetic variants associated with mild ID and BIF.
  • The findings support the role of the 12p11.22 deletion in cognitive impairment, even in milder forms of ID.
  • Genetic insights can aid in diagnosing and managing individuals with unexplained mild ID and BIF.