Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.

Autor: Elmakhzen B; Service de génétique et oncogénétique, CHU HASSAN 2, Fès, Maroc. badreddine.elmakhzen@usmba.ac.ma., Bouguenouch L; Service de génétique et oncogénétique, CHU HASSAN 2, Fès, Maroc., Oussama K; Service de génétique et oncogénétique, CHU HASSAN 2, Fès, Maroc., Ali El Asri Y; Service de génétique et oncogénétique, CHU HASSAN 2, Fès, Maroc., Askander O; Faculty of Medical Sciences, Mohamed VI Polytechnic University, Benguerir, Morocco.
Jazyk: angličtina
Zdroj: Molecular biology reports [Mol Biol Rep] 2024 Dec 02; Vol. 52 (1), pp. 32. Date of Electronic Publication: 2024 Dec 02.
DOI: 10.1007/s11033-024-10129-z
Abstrakt: Background: Dyggve-Melchior-Clausen (DMC) disease is a rare autosomal recessive disorder primarily characterized by spondylo-epimetaphyseal dysplasia, intellectual disability, and distinctive facial features. Patients typically present with severe developmental delays and cognitive impairments, defining features of the syndrome.
Methods and Results: This case report examines a 13-year-old Moroccan child diagnosed with DMC disease, presenting classical skeletal abnormalities, including spondylo-epimetaphyseal dysplasia, as confirmed through exome sequencing. Notably, the child exhibited a mutation recurrently identified in the Moroccan population. However, the patient showed no signs of developmental delay or intellectual disability, a marked deviation from the traditionally described phenotype. This finding suggests a broader clinical variability associated with DMC disease, emphasizing the importance of individualized assessments.
Conclusions: This atypical presentation expands the phenotypic spectrum of DMC disease, challenging its conventional diagnostic criteria. Further research is required to elucidate the factors influencing phenotypic variability in DMC and to explore potential genotype-phenotype correlations. Early identification and documentation of such atypical cases are critical for refining diagnostic and management strategies for rare disorders.
Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Ethical approval: The study was conducted in accordance with the guidelines and regulations set out by the relevant ethics committees and institutional review boards of the Fez University Hospital Ethics Committee, with ethics committee approval given to this study under number 02/2023 in accordance with the Declaration of Helsinki. Consent to participate: Informed consent was obtained from all individual participants included in the study. Written informed consent was obtained from the parents. Consent to publication: The authors affirm that human research participants provided informed consent for publication of the images. Informed consent: was obtained from all participants or their legal guardians before sample collection and sequencing.
(© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
Externí odkaz: