Identification of Novel Variants in the <i>NHS</i> in Four Turkish Patients With Nance-Horan Syndrome

Alavanda C., ARSLAN ATEŞ E., Demir S., Polat H., Hanoglu O., ARMAN A., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.197, sa.6, 2025 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 197 Sayı: 6
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1002/ajmg.a.64008
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.