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- Title
A Case of Cardiophaciocutaneous Syndrome without Cardiac Manifestations.
- Authors
Kır, Sema Nur; Paskal, Şeyma Aktaş; Canpolat, Mehmet; Dündar, Munis
- Abstract
Cardiophaciocutaneous syndrome [(CFC); OMIM: 615279] is a developmental disorder resulting from heterozygous mutations in the MAP2K1 gene located on chromosome 15. It is characterized by distinctive craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth retardation, and hypotonia. Developmental and epileptic encephalopathy-36 (OMIM: 300884) is a neurodevelopmental disorder caused by heterozygous/hemizygous mutations in the ALG13 gene on the X chromosome, resulting in severe delays in psychomotor development. A 6-year-old male patient was referred to our department from the neurology department with complaints of epilepsy, developmental delay, inability to speak, and walk. The patient, who had third-degree consanguineous parents, had no specific family history. Physical examination revealed strabismus, downward-slanting palpebral fissures, a broad nasal bridge, fragile hair, and relative macrocephaly. Clinical exome sequencing analysis of the patient detected a pathogenic missense heterozygous variant (c.389A>G, p.Tyr130Cys) in the MAP2K1 gene, a missense hemizygous variant of unknown significance (c.49A>G, p.Ile17Val) in the ALG13 gene, and a missense homozygous variant of unknown significance (c.650A>G, p.Glu217Gly) in the PEX1 gene. Metabolic tests ruled out peroxisomal diseases in our patient. Considering the prominent features of neurodevelopmental delay and dysmorphic appearance, it is important to recognize the potential phenotypic contribution of the ALG13 gene alongside the suspicion of CFC syndrome attributed to the MAP2K1 gene. Notably, our patient did not exhibit any of the major cardiac anomalies typically seen in CFC syndrome, which makes this case noteworthy from that perspective.
- Subjects
GENETIC variation; PEROXISOMAL disorders; GROWTH disorders; MISSENSE mutation; X chromosome; EPILEPSY; ALOPECIA areata
- Publication
Gazi Medical Journal, 2024, Vol 35, p79
- ISSN
1300-056X
- Publication type
Article