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Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report
Author(s) -
Cavole Thiago Rodrigues,
Perrone Eduardo,
Faria Soares Maria de Fatima,
Dias da Silva Magnus Régios,
Maeda Sergio Setsuo,
LazarettiCastro Marise,
Alvarez Perez Ana Beatriz
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61896
Subject(s) - microcephaly , intellectual disability , genetics , sss* , phenotype , gene , biology , medicine
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.