Hua-Ying Hu

Abstract Objectives: Preimplantation embryonic lethality (PREMBL) is a major cause of female infertility, characterized by early embryonic arrest. Homozygous or compound heterozygous mutations in PADI6 underlie preimplantation embryonic lethality-2 (PREMBL2). This study aims to conduct a systematic genetic investigation on a case with PADI6 biallelic variants.

1 Introduction Skeletal dysplasia (SD) represents a series of heterogeneous genetic disorders affecting approximately 2.3–4.5 in 10,000 births, which generally affects the growth, morphometry, and integrity of cartilage and/or bone (Orioli, Castilla, and Barbosa-Neto 1986). SDs are individually rare, yet collectively comprise a large group of disorders ranging from mild anomalies to lethality (Schramm and Mommsen 2018; Krakow and Rimoin 2010).

Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation.