A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of NFIX with Longitudinal Follow-Up and Future Prospectives

Simran Makker; Bernadine R. Gagnon; Isabella Trew; Vivian Mougios; Anne Hanna; Jessica M. Cale; Craig S. McIntosh

doi:10.3390/jcm13216575

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A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of NFIX with Longitudinal Follow-Up and Future Prospectives

Journal article

Open access

Peer reviewed

A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of NFIX with Longitudinal Follow-Up and Future Prospectives

Simran Makker, Bernadine R. Gagnon, Isabella Trew, Vivian Mougios, Anne Hanna, Jessica M. Cale and Craig S. McIntosh

Journal of clinical medicine, Vol.13(21), 6575

2024

DOI: https://doi.org/10.3390/jcm13216575

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Abstract

Case Report

Background and Objectives: Malan syndrome is a rare overgrowth syndrome resulting from NFIX haploinsufficiency due to heterozygous loss-of-function mutations or microdeletions of NFIX on chromosome 19 at p13.2. Phenotypic presentation can vary but is characterized by macrocephaly, long and slender body habitus, skeletal abnormalities, and intellectual disability. Methods: Here, we report on the presentation, management, and development of a patient with Malan syndrome, highlighting the clinical and behavioral aspects of this syndrome, therapeutic interventions employed, and the course of disease over a 15-year period. We review medical records, cytogenetic analysis and neuropsychologic testing results, as well as speech pathology, optometric, and medical reports. In addition, we discuss personalized therapeutic strategies that could potentially be exploited in the future for such overgrowth syndromes. Results: To our knowledge, this is the first longitudinal follow-up report of a case of Malan syndrome to highlight the clinical course, interventions employed, and resulting improvements in neurocognitive function over time. Conclusions: This case highlights the importance of early diagnosis, intervention, and preventative care in overgrowth syndromes, as well as the potential for therapeutic intervention in the future.

Details

Title: A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of NFIX with Longitudinal Follow-Up and Future Prospectives
Authors/Creators: Simran Makker
Bernadine R. Gagnon - Columbia University
Isabella Trew - Murdoch University
Vivian Mougios
Anne Hanna
Jessica M. Cale - Murdoch University, Centre for Molecular Medicine and Innovative Therapeutics
Craig S. McIntosh - Murdoch University, Centre for Molecular Medicine and Innovative Therapeutics
Publication Details: Journal of clinical medicine, Vol.13(21), 6575
Publisher: MDPI
Number of pages: 15
Identifiers: 991005717067807891
Murdoch Affiliation: Centre for Molecular Medicine and Innovative Therapeutics
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.186 Chromosome Disorders; 1.186.1533 Genomic Imprinting
Web Of Science research areas: Genetics & Heredity
ESI research areas: Clinical Medicine