Case Report

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

10.4274/jcrpe.galenos.2021.2020.0315

  • Erdal Eren
  • Havva Tezcan Unlu
  • Serdar Ceylaner
  • Omer Tarim

Received Date: 22.12.2020 Accepted Date: 10.08.2021 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 34382758

Kenny-Caffey syndrome (KCS) is a rare autosomal recessive/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 that results from FAM111A gene mutation. 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 autosomal recessive 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 FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.

Keywords: hypoparathyroidism, skeletal dysplasia, osteocraniostenosis, short stature, dysmorphism, FAM111A gene, autosomal recessive