Phenotype #0000286158
| Individual ID |
00392294 |
| Associated disease |
- |
| Phenotype details |
Pathogenic variants in the Oligophrenin 1 gene (OPHN1) cause an X-linked intellectual disability syndrome with a phenotype typically consisting of cerebellar hypoplasia, ventriculomegaly, seizures, facial dysmorphism, speech delay and sometimes behavioral difficulties. We describe a male patient with global developmental delay, and cerebellar hypoplasia and other neuroanatomical findings suggestive of a Dandy-Walker malformation. The clinical pontocerebellar hypoplasia sequencing panel revealed a partial duplication from exon 7 to exon 15 in OPHN1, which was maternally inherited. PCR-Sanger sequencing of cDNA showed a truncating frameshift in the OPHN1 transcript. Further, transcript level analysis of OPHN1 showed a 75% reduction in the total expression in the patient in comparison to controls. Presumably this leads to a similar reduction in the level of OPHN1 protein resulting in the observed phenotype. This is the first report of a partial duplication of exons 7-15 in OPHN1 in a patient with strabismus, speech delay, dysmorphic facial features, epilepsy, an autism-like phenotype, and developmental delay. |
| Diagnosis/Initial |
Intellectual developmental disorder, X-linked syndromic, Billuart type |
| Inheritance |
Familial, X-linked |
| Diagnosis/Definite |
Intellectual developmental disorder, X-linked syndromic, Billuart type |
| Age/Examination |
06y (6 years) |
| Age/Diagnosis |
- |
| Age/Onset |
02y |
| Phenotype/Onset |
by birth |
| Protein |
OLIGOPHRENIN 1 |
| Owner name |
Dr. Laxmi Kirola |
| Database submission license |
No license selected |
| Created by |
Dr. Laxmi Kirola |
| Date created |
2021-11-25 11:15:39 +01:00 (CET) |
| Date last edited |
2021-11-29 16:57:08 +01:00 (CET) |
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