Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
نویسندگان
چکیده
منابع مشابه
Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD)
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing...
متن کاملThree Novel Mutations in Iranian Patients with Tay-Sachs Disease
Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...
متن کاملNovel SLC9A6 mutations in two families with Christianson syndrome.
To the Editor : Mutations in SLC9A6 are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by severe intellectual disability, acquired microcephaly, seizures and ataxia (1, 2). Only nine mutations and two genomic aberrations involving SLC9A6 have been reported to date (1–7). Here, we report on two German families with novel SLC9A6 mutations...
متن کاملIdentification of three novel NHS mutations in families with Nance-Horan syndrome
PURPOSE Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, microphthalmia, and dental abnormalities. The syndrome is caused by mutations in the NHS gene, whose function is not known. The purpose of this study was to identify the frequency and distribution of NHS gene mutations and compare genotype with Nance-Horan phen...
متن کاملIdentification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
PURPOSE To identify the genetic defects underlying retinitis pigmentosa (RP) in Pakistani families. METHODS Genome-wide high-density single-nucleotide-polymorphism microarray analysis was performed using the DNA of nine affected individuals from two large families with multiple consanguineous marriages. Data were analyzed to identify homozygous regions that are shared by affected sibs in each...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2015
ISSN: 1471-2350
DOI: 10.1186/s12881-015-0183-0