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Article

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

American journal of medical genetics. Part A - 1 Mar 2026

Au Candice Wai-Man, Cheng Shirley Sze-Wing, Cheng Timothy Hua-Tse, Chan Pui Kwan Joyce, Ho Lai-In, Cheng Jenny Yeuk-Ki, Yeung Walter Wai, Ou Min, Tse Vincent Cheuk-Tung, Wong Hugo Chi-Chung, Luk Ho-Ming

Abstract excerpt

Raine Syndrome (MIM #259775) is an autosomal recessive osteosclerotic disorder due to biallelic variants in the FAM20C gene. It is classified into two subtypes based on perinatal lethality. Here, we report an 18-year-old male who presented with dental problems in childhood and subjective gait instability, followed by an incidental finding of hypophosphataemia and multiple-level spinal stenosis. Examination showed...

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Source

Identifiers

PMID: 41174912
DOI: 10.1002/ajmg.a.64292

Genes

FAM20C
FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.PMID 41174912Read ↗

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Semantic proximity Read ↗

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.Semantic proximity Read ↗

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease.Semantic proximity Read ↗

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.Semantic proximity Read ↗

A case of Raine syndrome presenting with facial dysmorphy and review of literature.Semantic proximity Read ↗

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Semantic proximity Read ↗

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.Semantic proximity Read ↗

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.Semantic proximity Read ↗

Report of a case of Raine syndrome and literature review.Semantic proximity Read ↗

Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.Semantic proximity Read ↗

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.Semantic proximity Read ↗

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.Semantic proximity Read ↗

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