Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families.
Neurol Sci
; 39(3): 497-501, 2018 Mar.
Article
en En
| MEDLINE
| ID: mdl-29305662
ABSTRACT
Heterozygous HTRA1 mutations, recently, have been reported as a cause of autosomal dominant hereditary cerebral small vessel disease (CSVD). We herein describe clinical and neuroimaging findings in two familial CSVD with two different heterozygous HTRA1 mutations. Detailed clinical and neuroimaging examination were conducted in probands and their available family members. A next-generation sequencing-based comprehensive gene panel was used to investigate their causative mutations. A novel heterozygous missense variant c.527T>C (p.V176A) and a novel heterozygous nonsense variant c.589C>T (p.R197X) in HTRA1 gene were detected in probands of family 1 and family 2, respectively. Co-segregation analysis in family 1 showed eight family members were mutation carriers. All alive male patients showed typical clinical and neuroimaging features of CSVD. All alive female mutation carriers were clinical or neuroimaging asymptomatic. Screening of HTRA1 should be considered in patients with familial CSVD. A male predominance may exist in patients with heterozygous HTRA1 mutations and need to be further investigated.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de los Pequeños Vasos Cerebrales
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Serina Peptidasa A1 que Requiere Temperaturas Altas
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Mutación
Límite:
Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Neurol Sci
Asunto de la revista:
NEUROLOGIA
Año:
2018
Tipo del documento:
Article
País de afiliación:
China