Compound Heterozygous Variants in <i>FAM111A</i> Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2.

Creative Commons License

Eren E., Tezcan Unlu H., Ceylaner S., Tarim Ö. F.

Journal of clinical research in pediatric endocrinology, vol.15, pp.97-102, 2023 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15
  • Publication Date: 2023
  • Doi Number: 10.4274/jcrpe.galenos.2021.2020.0315
  • Journal Name: Journal of clinical research in pediatric endocrinology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.97-102
  • Keywords: Hypoparathyroidism, skeletal dysplasia, osteocraniostenosis, short stature, dysmorphism, FAM111A gene, autosomal recessive
  • Bursa Uludag University Affiliated: Yes

Abstract

Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the FAM111A gene mutation. The FAM111A mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the FAM111A gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.