Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
Abnormalities, Multiple
/ genetics
Adolescent
Dwarfism
/ complications
Growth Disorders
/ complications
Humans
Hyperostosis, Cortical, Congenital
/ complications
Hypocalcemia
/ complications
Hypoparathyroidism
/ complications
Intellectual Disability
/ complications
Male
Mutation
Osteochondrodysplasias
/ complications
Phenotype
Receptors, Virus
/ genetics
Seizures
/ complications
FAM111A
Kenny-Caffey syndrome
Sanjad-Sakati syndrome
TBCE
hypoparathyroidism
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
26
03
2020
revised:
10
09
2020
accepted:
15
09
2020
pubmed:
4
10
2020
medline:
25
6
2021
entrez:
3
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33010201
doi: 10.1002/ajmg.a.61896
doi:
Substances chimiques
FAM111A protein, human
0
Receptors, Virus
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
3029-3034Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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