Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-02-01 Epub Date: 2024-08-22 DOI:10.1159/000540377

Enver Simsek, Sumeyye Emel Eren, Atilla Cayir, Oguzhan Tokur, Oguz Cilingir, Tulay Simsek

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引用次数: 0

Abstract

Introduction: Kenny-Caffey syndrome (KCS) is a rare syndrome characterized by short stature, hypoparathyroidism, eye abnormalities, and skeletal dysplasia. Two types of KCS result from pathogenic variants in the tubulin-specific chaperone E (TBCE) gene and the family with sequence similarity 111 member A (FAM111A) gene, respectively.

Case presentation: In this study, we present 4 patients from three different families exhibiting facial dysmorphism, postnatal growth retardation, short stature, delayed bone age, cortical thickening and medullary stenosis of the bones, and hypoparathyroidism. Two of these cases were diagnosed with growth hormone (GH) deficiency and underwent GH therapy, highlighting the response to GH treatment in KCS. Three consanguineous cases of KCS type 1 possess a homozygous variant c.155_166del in the TBCE gene, and 1 patient with KCS type 2 has a de novo pathogenic variant c.1706G>A (p.Arg569His) in the FAM111 gene.

Conclusions: Our findings suggest that prenatal and postnatal growth failure is a prominent characteristic of this syndrome, with KCS types 1 and 2 showing overlapping features.

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.