title: A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
abstract: Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Norikatsu
authors.initials: N
authors.lastname: Hikita
authors.affiliation: Nishinomiya-Sunago Medical and Welfare Center, Hyogo, Japan.
authors.forename: Hideji
authors.initials: H
authors.lastname: Hattori
authors.affiliation: Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakuma
authors.affiliation: Department of Pediatric Surgery, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Morotomi
authors.affiliation: Ishida Pediatric Clinic, Osaka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ishida
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Seto
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Katsuji
authors.initials: K
authors.lastname: Tanaka
authors.affiliation: Department of Radiology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Taro
authors.initials: T
authors.lastname: Shimono
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Haruo
authors.initials: H
authors.lastname: Shintaku
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan. Electronic address: m1155519@med.osaka-cu.ac.jp.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Tokuhara
mesh_terms: D002648:Child; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D054082:Lissencephaly / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D014404:Tubulin / Q000235:genetics*
chemical_list: C533522:TUBA1A protein, human; D014404:Tubulin
keywords: Hirschsprung disease; Lissencephaly; Microcephaly; Syndrome of inappropriate antidiuretic hormone secretion (SIADH); TUBA1A