Open AccessClinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome
Author(s) -
André Mégarbané,
Sayeeda Hana,
Hala Mégarbané,
Christel Castro,
Sylvain Baulande,
Audrey Criqui,
Nathalie Roëckel-Trevisiol,
Christel Dagher,
Mahmoud Taleb AlAli,
Jean-Pierre Desvignes,
Daniel Mahfoud,
Stephany ElHayek,
Valérie Delague
Publication year - 2021
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000517253
Subject(s) - dentinogenesis imperfecta , osteogenesis imperfecta , missense mutation , medicine , pediatrics , intellectual disability , exome sequencing , cousin , genetics , mutation , psychiatry , biology , anatomy , gene , history , archaeology
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G>A (p.Arg168His) missense mutation in IRX5 in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.