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Fig. 3 | Acta Neuropathologica Communications

Fig. 3

From: A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Fig. 3

Identification of a de novo heterozygous variant in ADGRL2. a Pedigree structure of the family. Red stars depict individuals subjected to WES. b WES identified a ADGRL2 c.3785T>A heterozygous variant resulting in a p.(Leu1262His) amino acid substitution, confirmed de novo by Sanger sequencing of proband and parents. c Schematic representation of ADGRL2 mRNA and protein. ADGRL2 contains a galactose binding lectin domain (GL), an olfactomedin-like domain (OLF), a domain present in hormone receptors (HRM), a domain of unknown function (DUF), a G-protein coupled receptor proteolytic site domain (GPS), 7 transmembrane domains (TM) and a cytoplasmic latrophilin domain. The variant (red) was localized in the exon 20, the resulting amino acid substitution occurred in the latrophilin domain. d Phylogenic conservation of the C-terminal domain. The position of the amino acid substitution is indicated by the red rectangle. Nt: amino-terminal; Ct: carboxy-terminal

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