Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
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ABSTRACT:
SUBMITTER: Shimomura R
PROVIDER: S-EPMC10788341 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Publications
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
Shimomura Rina R Yanagishita Tomoe T Ishiguro Kumiko K Shichiji Minobu M Sato Takatoshi T Shimojima Yamamoto Keiko K Nagata Miho M Ishihara Yasuki Y Miyashita Yohei Y Ishigaki Keiko K Nagata Satoru S Asano Yoshihiro Y Yamamoto Toshiyuki T
Human genome variation 20240115 1
GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. This may be due to differences in the mosaic ratios in different organs. ...[more]
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