Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report

Thiago Rodrigues Cavole; Eduardo Perrone; Maria de Fatima de Faria Soares; Magnus Régios Dias da Silva; Sergio Setsuo Maeda; Marise Lazaretti-Castro; Ana Beatriz Alvarez Perez

doi:10.1002/ajmg.a.61896

Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report

Am J Med Genet A. 2020 Dec;182(12):3029-3034. doi: 10.1002/ajmg.a.61896. Epub 2020 Oct 3.

Authors

Thiago Rodrigues Cavole¹, Eduardo Perrone¹, Maria de Fatima de Faria Soares², Magnus Régios Dias da Silva³, Sergio Setsuo Maeda³, Marise Lazaretti-Castro³, Ana Beatriz Alvarez Perez¹

Affiliations

¹ Department of Medical Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
² Department of Radiology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
³ Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

PMID: 33010201
DOI: 10.1002/ajmg.a.61896

Abstract

Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. We present a patient with KCS2 caused by a de novo pathogenic variant c.1706G>A (p.Arg569His) in FAM111A gene, presenting intellectual disability and microcephaly, which are considered to be typical signs of SSS. We suggest that KCS1, KCS2, and SSS may not represent mutually exclusive clinical entities, but possibly an overlapping spectrum.

Keywords: FAM111A; Kenny-Caffey syndrome; Sanjad-Sakati syndrome; TBCE; hypoparathyroidism.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology*
Adolescent
Dwarfism / complications
Dwarfism / genetics
Dwarfism / pathology*
Growth Disorders / complications
Growth Disorders / genetics
Growth Disorders / pathology*
Humans
Hyperostosis, Cortical, Congenital / complications
Hyperostosis, Cortical, Congenital / genetics
Hyperostosis, Cortical, Congenital / pathology*
Hypocalcemia / complications
Hypocalcemia / genetics
Hypocalcemia / pathology*
Hypoparathyroidism / complications
Hypoparathyroidism / genetics
Hypoparathyroidism / pathology*
Intellectual Disability / complications
Intellectual Disability / genetics
Intellectual Disability / pathology*
Male
Mutation*
Osteochondrodysplasias / complications
Osteochondrodysplasias / genetics
Osteochondrodysplasias / pathology*
Phenotype*
Receptors, Virus / genetics*
Seizures / complications
Seizures / genetics
Seizures / pathology*

Substances

FAM111A protein, human
Receptors, Virus

Supplementary concepts

Hypoparathyroidism-retardation-dysmorphism syndrome
Kenny-Caffey syndrome, type 2