Ceren Alavanda, Esra Arslan Ateş, Şenol Demir, Hamza Polat, Onur Hanoğlu, Ahmet Arman, Bilgen Bilge Geçkinli
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引用次数: 0
Abstract
Nance-Horan Syndrome (NHS) is an ultra-rare syndrome characterized by facial dysmorphism, teeth, and eye abnormalities. Pathogenic variants in NHS are responsible for NHS. Herein, we report four Turkish patients from two unrelated families having dysmorphic facial features, congenital bilateral cataracts, and dental anomalies. Molecular studies revealed two novel hemizygous (c.136_137del; p.Leu46Glyfs*136 and c.2690del; p.Thr897Serfs*19) variants in the NHS inherited from their mothers. In family 1, the mother and her children also carried a heterozygous known c.645G>A (p.Trp215*) AIPL1 variant, which explains the cone-rod dystrophy (CRD). This is the first report documenting the coexistence of NHS and AIPL1-related CRD.
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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