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Article

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

JCI insight - 24 Mar 2025

Li Dong, Mailand Niels, Ewing Emma, Hoffmann Saskia, Caswell Richard C, Pang Lewis, Eason Jacqueline, Dou Ying, Sullivan Kathleen E, Hakonarson Hakon, Levine Michael A

Abstract excerpt

Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by extreme short stature, cortical thickening and medullary stenosis of tubular bones, facial dysmorphism, abnormal T cell function, and hypoparathyroidism. Biallelic loss-of-function variants in TBCE cause autosomal recessive type 1 KCS (KCS1). By contrast, heterozygous missense variants in a restricted region of the FAM111A gene have been...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39932783
DOI: 10.1172/jci.insight.186862
PMCID: PMC11949059

Genes

FAM111A
TBCE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

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Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.PMID 39932783Read ↗

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Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.Semantic proximity Read ↗

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).Semantic proximity Read ↗

Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.Semantic proximity Read ↗

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Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.Semantic proximity Read ↗

Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.Semantic proximity Read ↗

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A geneSemantic proximity Read ↗

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