Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review

• Published in: European journal of medical genetics Vol. 63; no. 5; p. 103844
• Main Authors: Alghamdi, Malak, Alkhamis, Waleed H., Bashiri, Fahad A., Jamjoom, Dima, Al-Nafisah, Ghada, Tahir, Asma, Abdouelhoda, Mohamed
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.05.2020
• Subjects: CENPF gene; Child; Chromosomal Proteins, Non-Histone - genetics; Eye Abnormalities - genetics; Eye Abnormalities - pathology; Holoprosencephaly; Homozygote; Homozygous variant; Humans; Infant; Intestinal Atresia - genetics; Intestinal Atresia - pathology; Male; Microcephaly - genetics; Microcephaly - pathology; Microfilament Proteins - genetics; Mutation; Pedigree; Phenotype; Stromme syndrome; Stromme syndrome; Homozygous variant; CENPF gene; Holoprosencephaly
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2020.103844

This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. This clinical triad was initially named after the first person to describe it in 1993. Here, we report a family with two siblings who presented with unusual intestinal atresia and ocular and CNS abnormalities. The first patient is a 6-year-old-boy with apple peel duodeno-jejunal atresia, unilateral microphthalmia and microcephaly. The second patient, a younger brother, presented with intestinal atresia, corneal opacity and alobar holoprosencephaly and passed away at the age of 3 months. Exome sequencing showed a novel homozygous variant in the CENPF gene, NM_016343.3: c.1195-2 A > G that was detected in both of the affected siblings. This is a report and literature review of CENPF-related ciliopathy, which may result in Stromme syndrome. As this is the fourth report linking the CENPF gene variant with Stromme syndrome and first reported case presented with holoprosencephaly, it will expand the current knowledge on the genotype and the phenotype of Stromme syndrome.