Keiko Matsubara

Abstract Cyclic strabismus is a rare form of strabismus whereby individuals experience the disease in a pattern of alternating days with or without strabismus in a circadian rhythm-dependent manner. However, the molecular mechanism that underlies this rhythm is unknown. OPHN1 encodes a Rho GAP protein, and mutations specifically in the BAR or GAP domains of OPHN1 cause OPHN1 syndrome characterized by intellectual disability and often also strabismus.

1 Introduction Not so long ago targeted sequence analysis of single genes was performed to identify the genetic causative variant for a specific disease. With the implementation of whole exome sequencing as a first-tier test (and even genome sequencing in some countries), analysis is extended to all protein-coding genes, and consequently, the probability of detecting unexpected and/or unsolicited findings has increased (Crawford et al., 2013; Shkedi-Rafid et al., 2014).

Objective To clarify the characteristics of milestone achievement of Japanese infants using data assessed and recorded in real time via a web-based app by caregivers. Study design From 2014 to 2019, achievement of developmental milestones of 16,627 Japanese infants were recorded via the mobile app Papatto Ikuji along with pertinent information including sex, birthdate, anthropometric measurements, and information on feeding.