Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

被引：2

作者：

Megarbane, Andre ^{[1
,2
]}

Hana, Sayeeda ^{[3
]}

Megarbane, Hala ^{[4
]}

Castro, Christel ^{[5
]}

Baulande, Sylvain ^{[6
]}

Criqui, Audrey ^{[6
]}

Roeckel-Trevisiol, Nathalie ^{[5
]}

Dagher, Christel ^{[1
]}

Al-Ali, Mahmoud Taleb ^{[3
]}

Desvignes, Jean-Pierre ^{[5
]}

Mahfoud, Daniel ^{[7
]}

El-Hayek, Stephany ^{[3
]}

Delague, Valerie ^{[5
]}

机构：

[1] Lebanese Amer Univ, Dept Human Genet, Gilbert & Rose Marie Ghagoury Sch Med, Byblos, Lebanon

[2] Inst Jerome Lejeune, Paris, France

[3] Ctr Arab Genom Studies, Dubai, U Arab Emirates

[4] Balamand Univ, Dept Dermatol, St George Hosp, Beirut, Lebanon

[5] Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France

[6] Genopole Campus 2, PartnerChip, Evry, France

[7] Lebanese Amer Univ, Gilbert & Rose Marie Ghagoury Sch Med, Dept Radiol, Byblos, Lebanon

来源：

MOLECULAR SYNDROMOLOGY | 2021年 / 12卷 / 06期

关键词：

Dysmorphology; Exome sequencing; Hamamy; IRX5; IROQUOIS; PREDICTION; GENES; IRX5;

D O I：

10.1159/000517253

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：342 / 350

页数：9

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