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. 2020 Apr 14;7(5):610–627. doi: 10.1002/acn3.51003

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© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Pedigrees, Sanger sequencing, facial features, and brain MRI images of affected individuals from Families 1–3 with biallelic variants in GRM7. (A) Pedigree and Sanger sequencing showing segregation of the variants in GRM7 in Family 1. (B) Facial photograph of individual II‐1 (Family 1) at 13 years showing prominent teeth and everted lower lip. (C‐E) Brain MRI of individual II‐1 (Family 1) at 3 years. T1‐weighted image (midsagittal view) shows moderate to severe thinning of corpus callosum (CC), excess cerebral spinal fluid (CSF) around the falx cerebri indicating severe cerebral volume loss, and minimal cerebellar volume loss (C). T2‐weighted images (axial and coronal views) show hypomyelination, particularly over the anterior temporal horns, with normal fourth ventricle and hippocampi (D and E). (F) Facial photograph of individual II‐2 (Family 1) at 10 years shows high forehead and hypotonic face (G‐I) Brain MRI of individual II‐2 (Family 1) at 2 years. T1‐weighted image (midsagittal view) showing foreshortening of CC, and excess CSF around the falx cerebri indicating severe cerebral volume loss (G). T2‐weighted images (axial and coronal views) show normally myelinated internal capsule, excessive subarachnoid spaces, enlarged lateral ventricles secondary to cerebral volume loss, and T2 hyperintensity in bilateral hippocampi (H and I). (J) Pedigree and Sanger sequencing showing segregation of the variants in GRM7 in Family 2. (K) Facial photograph of individual II‐1 (Family 2) at 15 years shows a wide mouth. (L–N) Brain MRI of individual II‐1 (Family 2) at 2 months. T1‐weighted image (midsagittal view) shows normal CC (L). T2‐weighted images (axial and coronal views) show normal myelination for age (M and N). (O–Q) Brain MRI of individual II‐1 (Family 2) at 7 years. T1‐weighted image (midsagittal view) shows severe thinning of CC and normal cerebellum (O). T2‐weighted images (axial and coronal views) show global hypomyelination and normal hippocampus (P and Q). (R) Facial photograph of individual II‐2 (Family 2) at 10 years shows a wide mouth. (S–U) Brain MRI of individual II‐2 (Family 2) at day of life 2. T1‐weighted image (midsagittal view) shows normal CC (S). T2‐weighted images (axial and coronal views) show normal myelination for age (T‐U). (V‐X) Brain MRI of individual II‐2 (Family 2) at 5 years. T1‐weighted image (midsagittal view) shows severe thinning and foreshortening of CC, normal posterior pituitary and infundibulum, and normal vermis and cerebellum (V). T2‐weighted images (axial and coronal views) show global hypomyelination, small right cerebellar cyst and normal hippocampus (W and X). (Y) Pedigree and Sanger sequencing showing segregation of the variants in GRM7 in Family 3. (Z) Facial features of individual II‐6 (Family 3) at 6 years showing thick lips, crowded teeth, low frontal hairline, remarkable nose, and bulbous nasal tip.