期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 12, 页码 3112-3118出版社
WILEY
DOI: 10.1002/ajmg.a.35640
关键词
CASK; Intellectual disability; microcephaly; pontine hypoplasia; cerebellar hypoplasia; epilepsy; MRI
资金
- Research Grant for Nervous and Mental Disorders, Ministry of Health, Labor and Welfare of Japan [24-7]
- JSPS [24591790]
- Health and Labor Sciences Research Grants, Ministry of Health, Labor and Welfare of Japan
- New Energy and Industrial Technology Development Organization (NEDO)
- Grants-in-Aid for Scientific Research [24591790] Funding Source: KAKEN
Heterozygous loss of function mutations of CASK at Xp11.4 in females cause severe intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH). However, the longitudinal clinical and radiological course of affected patients, including patterns of postnatal growth, has not been described. Neurodevelopmental and imaging information was retrospectively accrued for 16 Japanese (15 female and 1 male) patients with ID and MICPCH associated with CASK mutations. All records were analyzed; patient age ranged from 2 to 16 years at the time of the most recent examinations. The growth pattern, neurological development, neurological signs/symptoms, and facial features were similar in the 15 female patients. Their head circumference at birth was within the normal range in about half, and their height and weight were frequently normal. This was followed by early development of severe microcephaly and postnatal growth retardation. The patients acquired head control almost normally between 3 and 6 months, followed by motor delay. More than half of the female patients had epilepsy. Their MRIs showed microcephaly, brainstem, and cerebellar hypoplasia in early infancy, and a normal or large appearing corpus callosum. The male patient showed a more severe clinical phenotype. These uniform clinical and radiological features should facilitate an early diagnosis and be useful for medical care of females with ID and MICPCH associated with CASK mutations. (C) 2012 Wiley Periodicals, Inc.
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