Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report

Frontiers in Genetics · 5 authors, 4 centres

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This case report describes a newborn diagnosed with severe Raine syndrome, identified as a compound heterozygote for two pathogenic FAM20C gene variants: a paternal nonsense variant c.1291C>T (p.Gln431*) and a maternal missense variant c.1135G>A (p.Gly379Arg). Clinical examination at 4 days revealed craniofacial dysmorphism including trigonocephaly, severe proptosis, choanal atresia, microretrognathia, and bilateral bowed tibia. At 4 months, acute gastritis and cerebral vasculitis were diagnosed. At nearly one year of age, the patient remained under institutionalized care with developmental delay, hyperextension of the head, diminished muscle tone and reflexes, and relied on nasogastric feeding and tracheostomy.

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case_report

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pediatrics

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ORIGINAL PAPER

PMC10171555

Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report

Frontiers in Genetics

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ABSTRACT

Abstract Raine syndrome is a congenital disorder caused by biallelic mutations in the FAM20C gene. While most diagnosed cases of the syndrome are lethal in the first few months of life, there are also reports of non-lethal cases with Raine syndrome. The characteristic of this syndrome is typical facial dysmorphism and generalized osteosclerosis, as well as possible intracranial calcification, hearing loss, and seizures. We report a case of a 4-day-old patient at the time of examination, born with a distinct facial dysmorphism, short neck, narrow chest, and curved tibia. The parents, affirmative gypsy and non-consanguineous, had a previous male child born with the same phenotype who died at 4 months old. The computed tomography scan revealed choanal atresia, while transfontanelar ultrasound showed hypoplasia of the frontal and temporal lobes, corpus callosum dysgenesis, and multiple areas of intracranial hyperechogenicity. The chest X-Ray revealed generalized increased bone density. A skeletal disorders gene panel was performed which identified two variants in the FAM20C gene: a pathogenic variant c.1291C>T (p.Gln431*) and a likely pathogenic variant (c.1135G>A) (p.Gly379Arg), confirming the clinical diagnosis. The parents were also tested, and each was found to carry one of the variants. The particularity of this case is the severe phenotype in a compound heterozygous case that consists of FAM20C c.1291C>T (p.Gln431*) variant that has recently been reported in the literature. Also, our case is one of the few compound-heterozygous mutations in the FAM20C gene that has been described in a non-consanguineous marriage. Keywords: case report, raine syndrome, craniofacial dysmorphism, osteosclerosis, FAM20C gene, congenital disorder

CITATION EXPORT

Camelia Chirteș, Alina Bogliș, Andrea Toth et al.. Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report. Frontiers in Genetics. (2023). https://doi.org/10.3389/fgene.2023.1179163

AUTHORS

5 · 4 CENTRES

Camelia Chirteș, Alina Bogliș, Andrea Toth, Corina Rac, Claudia Bănescu

1 Laboratory of Genetics, Department of Genetics, Emergency County Hospital, Târgu Mureș, Romania
2 Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science and Technology, Târgu Mureș, Romania
3 Department of Neonatology, Emergency County Hospital, Târgu Mureș, Romania
4Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, Târgu Mureș, Romania