Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
Eur J Med Genet
; 61(12): 733-737, 2018 Dec.
Article
in En
| MEDLINE
| ID: mdl-29883675
ABSTRACT
Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain Diseases
/
Carrier Proteins
/
Lateral Ventricles
/
Dwarfism
/
Microcephaly
Type of study:
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Eur J Med Genet
Journal subject:
GENETICA MEDICA
Year:
2018
Type:
Article