Background: Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia, chest deformities, and anemia. The minimum length missed so far is 1.4 Mb. However, there were no cases reported till date on microdeletions at position q25.2 on chromosome 15 with premature ovarian failure (POF).
Case presentation: We herein reported a POF case characterized by short stature with only 0.447 Mb deletion on chromosome 15q25.2. The clinical and molecular characteristics in our patient showed the slightest clinical manifestations, with no clinical signs of neurodevelopmental delay, inguinal hernia, chest deformities, and anemia when compared to the previously reported cases. The microdeletions in our case included only 7 genes (HOMER2, FAM103A1, C15orf40, BTBD1, TM6SF1, HDGFRP3 and BNC1), and excluded the CPEB1 gene. Among these, the BNC1 gene is the only one that is known to be involved in reproduction. We hypothesized that the deletion of BNC1 gene in this patient led to haploinsufficiency, and consequently to POF.
Conclusions: The study of this case increased the knowledge on the molecular and phenotypic consequences of interstitial 15q25.2 deletion, emphasizing that BNC1 gene deletion in this region might contribute to POF.
Keywords: 15q25.2; BCN1 gene; Microdeletion; Premature ovarian failure.