Hehr, Ute and Hehr, A. and Uyanik, G. and Phelan, E. and Winkler, J. and Reardon, W. (2006) A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. JOURNAL OF MEDICAL GENETICS, 43 (6). pp. 541-544. ISSN 0022-2593,
Full text not available from this repository. (Request a copy)Abstract
Background: Mutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be quite distinct. To date only six male cases of periventricular nodular heterotopia (PVNH) have been reported and these almost invariably associated with severe neurological signs. Methods and Results: We report a new phenotype of male PVNH, with relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism and without a discernible skeletal phenotype. This phenotype is associated with a splice site mutation in FLNA c. 1923C > T, resulting in the generation of both normal and aberrant mRNA. Conclusions: We postulate that the patient retains enough FLNA function to avoid the usual lethality associated with loss of function mutations in males and suggest that the severe constipation may be a clue to the molecular aetiology of other X linked conditions associated with severe constipation.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MOSAIC MUTATIONS; GENE CAUSE; FLN1 GENE; LOCUS; PHENOTYPE; MIGRATION; EPILEPSY; NEURONS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Feb 2021 09:16 |
| Last Modified: | 15 Feb 2021 09:16 |
| URI: | https://pred.uni-regensburg.de/id/eprint/34502 |
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